FVIII

UK haemophilia centre directors organisation, Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.,

Thromb. Haemost. 79:762-766(1998)

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain

Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.,

Br. J. Haematol. 105:1123-1126(1999)

Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum

Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.,

Hum. Mutat. 13:413-413(1999)

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation

Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.,

Hum. Mutat. 13:504-504(1999)

Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch

The haemophilia centres, Waseem N.H., Bagnall R., Green P.M., Giannelli F.,

Thromb. Haemost. 81:900-905(1999)

A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.,

Blood 96:958-965(2000)

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure

Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.,

Blood 96:979-987(2000)

Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.,

Br. J. Haematol. 108:241-246(2000)

Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family

Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.,

Br. J. Haematol. 109:523-528(2000)

Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis

Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.,

Haematologica 85:525-529(2000)

Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)

Recombinate PUP study group, Goodeve A.C., Williams I., Bray G.L., Peake I.R.,

Thromb. Haemost. 83:844-848(2000)

Mutations of the factor VIII gene in Thai hemophilia A patients

Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.,

Hum. Mutat. 15:117-118(2000)

Somatic mosaicism in hemophilia A: a fairly common event

Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.,

Am. J. Hum. Genet. 69:75-87(2001)

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.,

Hum. Mutat. 1:506-508(1992)

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A

McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.,

Genomics 15:392-398(1993)

Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene

Pieneman W.C., Reitsma P.H., Briet E.,

Thromb. Haemost. 69:473-475(1993)

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.,

Blood 86:3015-3020(1995)

Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients

Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.,

Br. J. Haematol. 90:442-449(1995)

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.,

Hum. Genet. 95:531-538(1995)

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies

Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.,

Am. J. Hum. Genet. 58:657-670(1996)

Molecular characterization of haemophilia A in southern Chinese

Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.,

Br. J. Haematol. 93:451-456(1996)

Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods

Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.,

Br. J. Haematol. 94:400-406(1996)

Mutations in the FVIII gene in seven families with mild haemophilia A

Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.,

Br. J. Haematol. 96:426-427(1997)

Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism

Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.,

Br. J. Haematol. 98:901-906(1997)

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

Tavassoli K., Eigel A., Pollmann H., Horst J.,

Hum. Genet. 100:508-511(1997)

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent

Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.,

Blood 75:662-670(1990)

CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site

Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.,

Br. J. Haematol. 75:73-77(1990)

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.,

Genomics 6:65-71(1990)

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.,

Genomics 6:293-301(1990)

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

Kogan S., Gitschier J.,

Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990)

Identification of mutations in two families with sporadic hemophilia A

Paynton C., Sarkar G., Sommer S.S.,

Hum. Genet. 87:397-400(1991)

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.,

Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991)

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

Higuchi M., Antonarakis S.E., Kasch L., Oldenburg J., Economou-Petersen E., Olek K., Arai M., Inaba H., Kazazian H.H. Jr.,

Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991)

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.,

Thromb. Res. 61:225-234(1991)

GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin

Krepelova A., Vorlova Z., Acquila M., Mori P.,

Br. J. Haematol. 81:458-458(1992)

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)

Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.,

Genomics 13:909-911(1992)

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

Reiner A.P., Thompson A.R.,

Hum. Genet. 89:88-94(1992)

A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.,

Hum. Mutat. 1:77-78(1992)

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A

Diamond C., Kogan S., Levinson B., Gitschier J.,

Hum. Mutat. 1:248-257(1992)

The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor

Saenko E.L., Scandella D.,

J. Biol. Chem. 272:18007-18014(1997)

Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A)

McMullen B.A., Fujikawa K., Davie E.W., Hedner U., Ezban M.,

Protein Sci. 4:740-746(1995)

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry

Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.,

J. Proteome Res. 4:2070-2080(2005)

Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy

Gilbert G.E., Baleja J.D.,

Biochemistry 34:3022-3031(1995)

The molecular basis of hemophilia A

Gitschier J.,

Ann. N. Y. Acad. Sci. 614:89-96(1991)

Factor VIII gene and hemophilia A

White G.C. II, Shoemaker C.B.,

Blood 73:1-12(1989)

Molecular etiology of factor VIII deficiency in hemophilia A

Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D.,

Hum. Mutat. 5:1-22(1995)

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.,

Science 232:1415-1416(1986)

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences

Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.,

Nucleic Acids Res. 15:9797-9805(1987)

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.,

Am. J. Hum. Genet. 42:718-725(1988)

Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene

Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.,

Am. J. Hum. Genet. 42:867-871(1988)

Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A

O'Brien D.P., Tuddenham E.G.,

Blood 73:2117-2122(1989)

An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule

Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.,

Blood 74:1612-1617(1989)

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A

Chan V., Chan T.K., Tong T.M., Todd D.,

Blood 74:2688-2691(1989)

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.,

Hum. Genet. 81:335-338(1989)

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine)

Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.,

Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989)

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A

Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.,

Blood 75:384-389(1990)

Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations

Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.,

Haemophilia 17:913-918(2011)

Factor VIII Antigen, Activity, and Mutations in Hemophilia A

Nair P.S., Shetty S., Ghosh K.,

Clin. Appl. Thromb. Hemost. 22:381-385(2016)

Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity

Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.,

J. Thromb. Haemost. 13:1843-1853(2015)

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

Citron M., Godmilow L., Ganguly T., Ganguly A.,

Hum. Mutat. 20:267-274(2002)

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses

Liu M.-L., Nakaya S., Thompson A.R.,

Thromb. Haemost. 87:273-276(2002)

11 hemophilia A patients without mutations in the factor VIII encoding gene

Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.,

Thromb. Haemost. 88:357-360(2002)

Analysis of 18 novel mutations in the factor VIII gene

Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.,

Br. J. Haematol. 122:810-817(2003)

Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions

Habart D., Kalabova D., Novotny M., Vorlova Z.,

J. Thromb. Haemost. 1:773-781(2003)

Genotype and phenotype of haemophilia A in Thai patients

Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.,

Haemophilia 9:179-186(2003)

Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations

Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.,

Am. J. Hematol. 78:117-122(2005)

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

Hill M., Deam S., Gordon B., Dolan G.,

Haemophilia 11:133-141(2005)

Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII

Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.,

J. Thromb. Haemost. 4:1969-1974(2006)

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites

Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.,

Blood 111:3468-3478(2008)

Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA

Truett M.A., Blacher R., Burke R.L., Caput D., Chu C., Dina D., Hartog K., Kuo C.H., Masiarz F.R., Merryweather J.P., Najarian R., Pachl C., Potter S.J., Puma J., Quiroga M., Rall L.B., Randolph A., Urdea M.S., Ezban M.,

DNA 4:333-349(1985)

Expression of active human factor VIII from recombinant DNA clones

Wood W.I., Capon D.J., Simonsen C.C., Eaton D.L., Gitschier J., Keyt B., Seeburg P.H., Smith D.H., Hollingshead P., Wion K.L., Delwart E., Tuddenham E.G.D., Vehar G.A., Lawn R.M.,

Nature 312:330-337(1984)

Evidence for a third transcript from the human factor VIII gene

Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J.,

Genomics 14:585-589(1992)

Molecular cloning of a cDNA encoding human antihaemophilic factor

Toole J.J., Knopf J.L., Wozney J.M., Sultzman L.A., Buecker J.L., Pittman D.D., Kaufman R.J., Brown E., Shoemaker C., Orr E.C., Amphlett G.W., Foster W.B., Coe M.L., Knutson G.J., Fass D.N., Hewick R.M.,

Nature 312:342-347(1984)

Sequence of the exon-containing regions of the human factor VIII gene

Gitschier J., Wood W.I.,

Hum. Mol. Genet. 1:199-200(1992)

Complete sequencing and characterization of 21,243 full-length human cDNAs

Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Sugano S.,

Nat. Genet. 36:40-45(2004)

The DNA sequence of the human X chromosome

Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., Bentley D.R.,

Nature 434:325-337(2005)

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)

The MGC Project Team,

Genome Res. 14:2121-2127(2004)

Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis

Severs J.C., Carnine M., Eguizabal H., Mock K.K.,

Rapid Commun. Mass Spectrom. 13:1016-1023(1999)

Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor

Leyte A., van Schijndel H.B., Niehrs C., Huttner W.B., Verbeet M.P., Mertens K., van Mourik J.A.,

J. Biol. Chem. 266:740-746(1991)

Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII

Pittman D.D., Wang J.H., Kaufman R.J.,

Biochemistry 31:3315-3325(1992)

Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA.

Truett M.A., Blacher R., Burke R.L., Caput D., Chu C., Dina D., Hartog K., Kuo C.H., Masiarz F.R., Merryweather J.P., Najarian R., Pachl C., Potter S.J., Puma J., Quiroga M., Rall L.B., Randolph A., Urdea M.S., Ezban M.,

DNA 4:333-349(1985)

Expression of active human factor VIII from recombinant DNA clones.

Wood W.I., Capon D.J., Simonsen C.C., Eaton D.L., Gitschier J., Keyt B., Seeburg P.H., Smith D.H., Hollingshead P., Wion K.L., Delwart E., Tuddenham E.G.D., Vehar G.A., Lawn R.M.,

Nature 312:330-337(1984)

Evidence for a third transcript from the human factor VIII gene.

Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J.,

Genomics 14:585-589(1992)

Molecular cloning of a cDNA encoding human antihaemophilic factor.

Toole J.J., Knopf J.L., Wozney J.M., Sultzman L.A., Buecker J.L., Pittman D.D., Kaufman R.J., Brown E., Shoemaker C., Orr E.C., Amphlett G.W., Foster W.B., Coe M.L., Knutson G.J., Fass D.N., Hewick R.M.,

Nature 312:342-347(1984)

Sequence of the exon-containing regions of the human factor VIII gene.

Gitschier J., Wood W.I.,

Hum. Mol. Genet. 1:199-200(1992)

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Sugano S.,

Nat. Genet. 36:40-45(2004)

The DNA sequence of the human X chromosome.

Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., Bentley D.R.,

Nature 434:325-337(2005)

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

The MGC Project Team,

Genome Res. 14:2121-2127(2004)

Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis.

Severs J.C., Carnine M., Eguizabal H., Mock K.K.,

Rapid Commun. Mass Spectrom. 13:1016-1023(1999)

Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor.

Leyte A., van Schijndel H.B., Niehrs C., Huttner W.B., Verbeet M.P., Mertens K., van Mourik J.A.,

J. Biol. Chem. 266:740-746(1991)

Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII.

Pittman D.D., Wang J.H., Kaufman R.J.,

Biochemistry 31:3315-3325(1992)

The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.

Saenko E.L., Scandella D.,

J. Biol. Chem. 272:18007-18014(1997)

Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A).

McMullen B.A., Fujikawa K., Davie E.W., Hedner U., Ezban M.,

Protein Sci. 4:740-746(1995)

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.,

J. Proteome Res. 4:2070-2080(2005)

Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy.

Gilbert G.E., Baleja J.D.,

Biochemistry 34:3022-3031(1995)

The molecular basis of hemophilia A.

Gitschier J.,

Ann. N. Y. Acad. Sci. 614:89-96(1991)

Factor VIII gene and hemophilia A.

White G.C. II, Shoemaker C.B.,

Blood 73:1-12(1989)

Molecular etiology of factor VIII deficiency in hemophilia A.

Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D.,

Hum. Mutat. 5:1-22(1995)

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.,

Science 232:1415-1416(1986)

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.

Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.,

Nucleic Acids Res. 15:9797-9805(1987)

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.,

Am. J. Hum. Genet. 42:718-725(1988)

Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene.

Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.,

Am. J. Hum. Genet. 42:867-871(1988)

Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A.

O'Brien D.P., Tuddenham E.G.,

Blood 73:2117-2122(1989)

An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule.

Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.,

Blood 74:1612-1617(1989)

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

Chan V., Chan T.K., Tong T.M., Todd D.,

Blood 74:2688-2691(1989)

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.

Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.,

Hum. Genet. 81:335-338(1989)

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine).

Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.,

Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989)

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.,

Blood 75:384-389(1990)

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.,

Blood 75:662-670(1990)

CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site.

Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.,

Br. J. Haematol. 75:73-77(1990)

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.,

Genomics 6:65-71(1990)

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.,

Genomics 6:293-301(1990)

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

Kogan S., Gitschier J.,

Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990)

Identification of mutations in two families with sporadic hemophilia A.

Paynton C., Sarkar G., Sommer S.S.,

Hum. Genet. 87:397-400(1991)

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.,

Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991)

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Higuchi M., Antonarakis S.E., Kasch L., Oldenburg J., Economou-Petersen E., Olek K., Arai M., Inaba H., Kazazian H.H. Jr.,

Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991)

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.

Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.,

Thromb. Res. 61:225-234(1991)

GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.

Krepelova A., Vorlova Z., Acquila M., Mori P.,

Br. J. Haematol. 81:458-458(1992)

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.,

Genomics 13:909-911(1992)

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.

Reiner A.P., Thompson A.R.,

Hum. Genet. 89:88-94(1992)

A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.

Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.,

Hum. Mutat. 1:77-78(1992)

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.

Diamond C., Kogan S., Levinson B., Gitschier J.,

Hum. Mutat. 1:248-257(1992)

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.

Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.,

Hum. Mutat. 1:506-508(1992)

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.

McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.,

Genomics 15:392-398(1993)

Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.

Pieneman W.C., Reitsma P.H., Briet E.,

Thromb. Haemost. 69:473-475(1993)

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.

Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.,

Blood 86:3015-3020(1995)

Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients.

Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.,

Br. J. Haematol. 90:442-449(1995)

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.

Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.,

Hum. Genet. 95:531-538(1995)

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.,

Am. J. Hum. Genet. 58:657-670(1996)

Molecular characterization of haemophilia A in southern Chinese.

Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.,

Br. J. Haematol. 93:451-456(1996)

Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.

Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.,

Br. J. Haematol. 94:400-406(1996)

Mutations in the FVIII gene in seven families with mild haemophilia A.

Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.,

Br. J. Haematol. 96:426-427(1997)

Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism.

Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.,

Br. J. Haematol. 98:901-906(1997)

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.

Tavassoli K., Eigel A., Pollmann H., Horst J.,

Hum. Genet. 100:508-511(1997)

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.

Liu M., Murphy M.E.P., Thompson A.R.,

Br. J. Haematol. 103:1051-1060(1998)

Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.

Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C., Demaille J., Claustres M.,

Hum. Mutat. 11:18-22(1998)

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.

Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H.,

Hum. Mutat. 11:334-334(1998)

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.

Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J., Cassiman J.-J., Matthijs G.,

Hum. Mutat. 11:470-479(1998)

Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).

Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.,

Hum. Mutat. Suppl. 1:S260-S262(1998)

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.

Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.,

Hum. Mutat. 12:301-303(1998)

Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.

Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.,

Hum. Mutat. 12:393-402(1998)

Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.

Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G., Wright J., Peake I.R., Goodeve A.C.,

Thromb. Haemost. 79:723-726(1998)

Factor VIII inhibitors in mild and moderate-severity haemophilia A.

UK haemophilia centre directors organisation, Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.,

Thromb. Haemost. 79:762-766(1998)

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.

Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.,

Br. J. Haematol. 105:1123-1126(1999)

Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum.

Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.,

Hum. Mutat. 13:413-413(1999)

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation.

Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.,

Hum. Mutat. 13:504-504(1999)

Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch.

The haemophilia centres, Waseem N.H., Bagnall R., Green P.M., Giannelli F.,

Thromb. Haemost. 81:900-905(1999)

A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor.

Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.,

Blood 96:958-965(2000)

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.

Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.,

Blood 96:979-987(2000)

Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.

Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.,

Br. J. Haematol. 108:241-246(2000)

Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.

Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.,

Br. J. Haematol. 109:523-528(2000)

Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.

Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.,

Haematologica 85:525-529(2000)

Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate).

Recombinate PUP study group, Goodeve A.C., Williams I., Bray G.L., Peake I.R.,

Thromb. Haemost. 83:844-848(2000)

Mutations of the factor VIII gene in Thai hemophilia A patients.

Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.,

Hum. Mutat. 15:117-118(2000)

Somatic mosaicism in hemophilia A: a fairly common event.

Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.,

Am. J. Hum. Genet. 69:75-87(2001)

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.,

Br. J. Haematol. 112:1062-1070(2001)

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.,

Haemophilia 7:381-391(2001)

Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation.

Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.,

Haemophilia 7:419-421(2001)

Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.

Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K., Caglayan S.H.,

Haemophilia 7:475-481(2001)

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A., Horst J.,

Hum. Mutat. 18:546-546(2001)

Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.

Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.,

Thromb. Haemost. 85:580-583(2001)

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M., Negrier C.,

Blood 100:3034-3036(2002)

Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.

Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.,

Br. J. Haematol. 119:390-392(2002)

Three novel point mutations causing haemophilia A.

Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S., Efremov G.D.,

Haemophilia 8:715-718(2002)

The identification and classification of 41 novel mutations in the factor VIII gene (F8C).

Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.,

Hum. Mutat. 19:274-278(2002)

Identification of seven novel mutations of F8C by DHPLC.

Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G., Morfini M., Torricelli F.,

Hum. Mutat. 20:231-232(2002)

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

Citron M., Godmilow L., Ganguly T., Ganguly A.,

Hum. Mutat. 20:267-274(2002)

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.

Liu M.-L., Nakaya S., Thompson A.R.,

Thromb. Haemost. 87:273-276(2002)

11 hemophilia A patients without mutations in the factor VIII encoding gene.

Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.,

Thromb. Haemost. 88:357-360(2002)

Analysis of 18 novel mutations in the factor VIII gene.

Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.,

Br. J. Haematol. 122:810-817(2003)

Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.

Habart D., Kalabova D., Novotny M., Vorlova Z.,

J. Thromb. Haemost. 1:773-781(2003)

Genotype and phenotype of haemophilia A in Thai patients.

Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.,

Haemophilia 9:179-186(2003)

Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.

Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.,

Am. J. Hematol. 78:117-122(2005)

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Hill M., Deam S., Gordon B., Dolan G.,

Haemophilia 11:133-141(2005)

Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.

Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.,

J. Thromb. Haemost. 4:1969-1974(2006)

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.,

Blood 111:3468-3478(2008)

Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.

Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.,

Haemophilia 17:913-918(2011)

Factor VIII Antigen, Activity, and Mutations in Hemophilia A.

Nair P.S., Shetty S., Ghosh K.,

Clin. Appl. Thromb. Hemost. 22:381-385(2016)

Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity.

Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.,

J. Thromb. Haemost. 13:1843-1853(2015)

Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function.

Celie P.H., Van Stempvoort G., Jorieux S., Mazurier C., Van Mourik J.A., Mertens K.,

Br J Haematol 106:792-800(1999)

Structure of the C2 domain of human factor VIII at 1.5 A resolution.

Pratt K.P., Shen B.W., Takeshima K., Davie E.W., Fujikawa K., Stoddard B.L.,

Nature 402:439-442(1999)

The association between the Val34Leu polymorphism in the factor XIII gene and brain infarction.

Elbaz A., Poirier O., Canaple S., Chedru F., Cambien F., Amarenco P.,

Blood 95:586-591(2000)

The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.

Seemann J., Jokitalo E.J., Warren G.,

Mol. Biol. Cell 11:635-645(2000)

Asymmetric requirements for a Rab GTPase and SNARE proteins in fusion of COPII vesicles with acceptor membranes.

Cao X., Barlowe C.,

J Cell Biol 149:55-66(2000)

COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.

Stephens D.J., Lin-Marq N., Pagano A., Pepperkok R., Paccaud J.P.,

J Cell Sci 113:2177-2185(2000)

Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.

Allan B.B., Moyer B.D., Balch W.E.,

Science 289:444-448(2000)

Dynamics of transitional endoplasmic reticulum sites in vertebrate cells.

Hammond A.T., Glick B.S.,

Mol Biol Cell 11:3013-3030(2000)

Venous thrombosis in relation to fibrinogen and factor VII genes among African-Americans.

Austin H., Hooper W.C., Lally C., Dilley A., Ellingsen D., Wideman C., Wenger N.K., Rawlins P., Silva V., Evatt B.,

J Clin Epidemiol 53:997-1001(2000)

Subunit structure of a mammalian ER/Golgi SNARE complex.

Xu D., Joglekar A.P., Williams A.L., Hay J.C.,

J. Biol. Chem. 275:39631-39639(2000)

Ethnic heterogeneity of the factor XIII Val34Leu polymorphism.

Attie-Castro F.A., Zago M.A., Lavinha J., Elion J., Rodriguez-Delfin L., Guerreiro J.F., Franco R.F.,

Thromb Haemost 84:601-603(2000)

Factor XIII Val34Leu and the risk of venous thromboembolism in factor V Leiden carriers.

Franco R.F., Middeldorp S., Meinardi J.R., van Pampus E.C., Reitsma P.H.,

Br J Haematol 111:118-121(2000)

Factor VIII gene polymorphisms in the Asian Indian population.

Chowdhury M.R., Herrmann F.H., Schroder W., Lambert C.T., Lalloz M.R., Layton M., Kumbnani H.K., Kabra M., Menon P.S., Verma I.C.,

Haemophilia 6:625-630(2000)

St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families.

Shetty S., Ghosh K., Mohanty D.,

Haematologia (Budap) 30:203-207(2000)

Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa.

Pipe S.W., Saenko E.L., Eickhorst A.N., Kemball-Cook G., Kaufman R.J.,

Blood 97:685-691(2001)

Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.

Moyer B.D., Allan B.B., Balch W.E.,

Traffic 2:268-276(2001)

The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.

Weide T., Bayer M., Koester M., Siebrasse J.-P., Peters R., Barnekow A.,

EMBO Rep. 2:336-341(2001)

Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)).

David D., Saenko E.L., Santos I.M., Johnson D.J., Tuddenham E.G., McVey J.H., Kemball-Cook G.,

Br J Haematol 113:604-615(2001)

A common mutation in the gene for coagulation factor XIII-A (VAL34Leu): a risk factor for primary intracerebral hemorrhage is protective against atherothrombotic diseases.

Gemmati D., Serino M.L., Ongaro A., Tognazzo S., Moratelli S., Resca R., Moretti M., Scapoli G.L.,

Am J Hematol 67:183-188(2001)

Carrier detection and prenatal diagnosis in families with haemophilia.

Shetty S., Ghosh K., Bhide A., Mohanty D.,

Natl Med J India 14:81-83(2001)

Structure of a factor VIII C2 domain-immunoglobulin G4kappa Fab complex: identification of an inhibitory antibody epitope on the surface of factor VIII.

Spiegel P.C. Jr., Jacquemin M., Saint-Remy J.M., Stoddard B.L., Pratt K.P.,

Blood 98:13-19(2001)

Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion.

Boyd S., Owens D., Gin T., Bunce K., Sherafat H., Perry D., Hykin P.G.,

Br J Ophthalmol 85:1313-1315(2001)

High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene.

Kamphuisen P.W., Eikenboom J.C., Rosendaal F.R., Koster T., Blann A.D., Vos H.L., Bertina R.M.,

Br J Haematol 115:156-158(2001)

Role of factor XIII Val 34 Leu polymorphism in patients with migraine.

Iniesta J.A., Corral J., Gonzalez-Conejero R., Diaz Ortuno A., Martinez Navarro M.L., Vicente V.,

Cephalalgia 21:837-841(2001)

Role of factor XIII Val34Leu polymorphism in retinal artery occlusion.

Weger M., Renner W., Stanger O., Schmut O., Deutschmann H., Wascher T.C., Haas A.,

Stroke 32:2759-2761(2001)

The significance of nucleotide repeat sequences in FVIII gene for detecting hemophilia A carriers.

Long G., Zhu C., Liu J.,

Zhonghua Xue Ye Xue Za Zhi 22:511-513(2001)

Cofactor activities of factor VIIIa and A2 subunit following cleavage of A1 subunit at Arg336.

Koszelak Rosenblum M.E., Schmidt K., Freas J., Mastri M., Fay P.J.,

J Biol Chem 277:11664-11669(2002)

3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography.

Stoilova-McPhie S., Villoutreix B.O., Mertens K., Kemball-Cook G., Holzenburg A.,

Blood 99:1215-1223(2002)

Absence of mutations at the APC interacting sites of factor VIII in Caucasians.

Brummer J., Groth J., Flayeh R., Wagener C., Jung R.,

Thromb Haemost 87:170-170(2002)

A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A.

Xie Y.G., Zheng H., Leggo J., Scully M.F., Lillicrap D.,

Thromb Haemost 87:178-179(2002)

Molecular basis for different ability of low-density and high-density lipoproteins to support activity of the intrinsic Xase complex.

Khrenov A., Sarafanov A., Ananyeva N., Kouiavskaia D., Shima M., Schwinn H., Josic D., Saenko E.,

Thromb Res 105:87-93(2002)

Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115.

Shorter J., Beard M.B., Seemann J., Dirac-Svejstrup A.B., Warren G.,

J. Cell Biol. 157:45-62(2002)

No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

Cho K.H., Kim B.C., Kim M.K., Shin B.A.,

J Korean Med Sci 17:249-253(2002)

Intrinsic pathway of blood coagulation contributes to thrombogenicity of atherosclerotic plaque.

Ananyeva N.M., Kouiavskaia D.V., Shima M., Saenko E.L.,

Blood 99:4475-4485(2002)

Mutations at the activated protein C cleavage sites Arg336 and Arg562 of factor VIII in Thai patients with venous thrombosis.

Prayoonwiwat W., Arnutti P., Nathalang O., Suwanasophon C., Viputtigul K.,

Southeast Asian J Trop Med Public Health 32:880-883(2001)

Effect of factor VIII deficiency on generation of thrombin: a biomechanical approach.

Obraztsov I.F., Kuz'min V.M., Khanin M.A., Kogan A.E., Anan'eva N.M., Saenko E.L.,

Dokl Biochem Biophys 383:119-121(2002)

Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex.

Jenkins P.V., Freas J., Schmidt K.M., Zhou Q., Fay P.J.,

Blood 100:501-508(2002)

First molecular characterization of an unequal homologous alu-mediated recombination event responsible for hemophilia.

Vidal F., Farssac E., Tusell J., Puig L., Gallardo D.,

Thromb Haemost 88:12-16(2002)

Molecular defects in coagulation Factor VIII and their impact on Factor VIII function.

Saenko E.L., Ananyeva N., Kouiavskaia D., Schwinn H., Josic D., Shima M., Hauser C.A., Pipe S.,

Vox Sang 83:89-96(2002)

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

Bogdanova N., Markoff A., Pollmann H., Nowak-Gottl U., Eisert R., Dworniczak B., Eigel A., Horst J.,

Hum Mutat 20:236-237(2002)

Coordinate binding studies of the substrate (factor X) with the cofactor (factor VIII) in the assembly of the factor X activating complex on the activated platelet surface.

Ahmad S.S., Walsh P.N.,

Biochemistry 41:11269-11276(2002)

Sec16p potentiates the action of COPII proteins to bud transport vesicles.

Supek F., Madden D.T., Hamamoto S., Orci L., Schekman R.W.,

J. Cell Biol. 158:1029-1038(2002)

Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis.

Van Hylckama Vlieg A., Komanasin N., Ariens R.A., Poort S.R., Grant P.J., Bertina R.M., Rosendaal F.R.,

Br J Haematol 119:169-175(2002)

Co-segregation of thrombophilic disorders in factor V Leiden carriers; the contributions of factor VIII, factor XI, thrombin activatable fibrinolysis inhibitor and lipoprotein(a) to the absolute risk of venous thromboembolism.

Libourel E.J., Bank I., Meinardi J.R., Balje -Volkers C.P., Hamulyak K., Middeldorp S., Koopman M.M., van Pampus E.C., Prins M.H., Buller H.R., van der Meer J.,

Haematologica 87:1068-1073(2002)

Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy.

Hakeos W.H., Miao H., Sirachainan N., Kemball-Cook G., Saenko E.L., Kaufman R.J., Pipe S.W.,

Thromb Haemost 88:781-787(2002)

Low density lipoprotein receptor-related protein and factor IXa share structural requirements for binding to the A3 domain of coagulation factor VIII.

Bovenschen N., Boertjes R.C., van Stempvoort G., Voorberg J., Lenting P.J., Meijer A.B., Mertens K.,

J Biol Chem 278:9370-9377(2003)

2% Haemophilia A patients without mutation in the FVIII gene.

Uen C., Oldenburg J., Schroder J., Brackmann H.J., Schramm W., Schwaab R., Schneppenheim R., Graw J.,

Hamostaseologie 23:1-5(2003)

Effect of factor VIII on tissue factor-initiated spatial clot growth.

Ovanesov M.V., Lopatina E.G., Saenko E.L., Ananyeva N.M., Ul'yanova L.I., Plyushch O.P., Butilin A.A., Ataullakhanov F.I.,

Thromb Haemost 89:235-242(2003)

Study on the Polymorphism of Intron 22 (CA)n Repeat within FVIII Gene in Dai, Yi and Han Populations of Yunnan Province.

Tai H., Dian Z., Ouyang H., Li Z., Wan H., Ruan C.,

Zhongguo Shi Yan Xue Ye Xue Za Zhi 8:142-144(2000)

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

Molecular characterization of the immune response to factor VIII.

Lollar P.,

Vox Sang 83 Suppl 1:403-408(2002)

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Zhang B., Cunningham M.A., Nichols W.C., Bernat J.A., Seligsohn U., Pipe S.W., McVey J.H., Schulte-Overberg U., de Bosch N.B., Ruiz-Saez A., White G.C., Tuddenham E.G., Kaufman R.J., Ginsburg D.,

Nat. Genet. 34:220-225(2003)

The preparation and phospholipid binding property of the C2 domain of human factor VIII.

Takeshima K., Smith C., Tait J., Fujikawa K.,

Thromb Haemost 89:788-794(2003)

Contributions of Asn2198, Met2199, and Phe2200 in the factor VIII C2 domain to cofactor activity, phospholipid-binding, and von Willebrand factor-binding.

Lewis D.A., Pound M.L., Ortel T.L.,

Thromb Haemost 89:795-802(2003)

Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism--Indian experience.

Chowdhury M.R., Tiwari M., Kabra M., Menon P.S.,

Ann Hematol 82:427-430(2003)

Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.

Andrikovics H., Klein I., Bors A., Nemes L., Marosi A., Varadi A., Tordai A.,

Haematologica 88:778-784(2003)

Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen.

Adams G.T., Snieder H., McKie V.C., Clair B., Brambilla D., Adams R.J., Kutlar F., Kutlar A.,

BMC Med Genet 4:6-6(2003)

Anti-heavy-chain monoclonal antibodies directed to the acidic regions of the factor VIII molecule inhibit the binding of factor VIII to phospholipids and von Willebrand factor.

Raut S., Villard S., Grailly S., Gilles J.G., Granier C., Saint-Remy J.M., Barrowcliffe T.W.,

Thromb Haemost 90:385-397(2003)

Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development.

d'Oiron R., Lavergne J.M., Lavend'homme R., Benhida A., Bordet J.C., Negrier C., Peerlinck K., Vermylen J., Saint-Remy J.M., Jacquemin M.,

Blood 103:155-157(2004)

Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

Ludwig M., Sabharwal A.K., Brackmann H.H., Olek K., Smith K.J., Birktoft J.J., Bajaj S.P.,

Blood 79:1225-1232(1992)

Factor VIII and von Willebrand factor changes during normal pregnancy and puerperium.

Sanchez-Luceros A., Meschengieser S.S., Marchese C., Votta R., Casais P., Woods A.I., Nadal M.V., Salviu M.J., Lazzari M.A.,

Blood Coagul Fibrinolysis 14:647-651(2003)

Thrombophilic families with inheritably associated high levels of coagulation factors VIII, IX and XI.

Lavigne G., Mercier E., Quere I., Dauzat M., Gris J.C.,

J Thromb Haemost 1:2134-2139(2003)

Binding studies of the enzyme (factor IXa) with the cofactor (factor VIIIa) in the assembly of factor-X activating complex on the activated platelet surface.

Ahmad S.S., London F.S., Walsh P.N.,

J Thromb Haemost 1:2348-2355(2003)

LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII.

Cunningham M.A., Pipe S.W., Zhang B., Hauri H.P., Ginsburg D., Kaufman R.J.,

J Thromb Haemost 1:2360-2367(2003)

Persistent high factor VIII:C in a child with ischemic stroke.

Rauch R., Girisch M., Hertzberg H., Klinge J., Hofbeck M.,

Thromb Res 111:51-54(2003)

Elevated plasma levels of factor VIII in women with early recurrent miscarriage.

Marietta M., Facchinetti F., Sgarbi L., Simoni L., Bertesi M., Torelli G., Volpe A.,

J Thromb Haemost 1:2536-2539(2003)

Activation of factor VIII and mechanisms of cofactor action.

Fay P.J.,

Blood Rev 18:1-15(2004)

Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.

Hefler L., Jirecek S., Heim K., Grimm C., Antensteiner G., Zeillinger R., Husslein P., Tempfer C.,

J Soc Gynecol Investig 11:42-44(2004)

The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK.

Cumming A.M.,

J Thromb Haemost 2:205-206(2004)

Identification of a factor Xa-interactive site within residues 337-372 of the factor VIII heavy chain.

Nogami K., Lapan K.A., Zhou Q., Wakabayashi H., Fay P.J.,

J Biol Chem 279:15763-15771(2004)

Factor VIII expression in liver disease.

Hollestelle M.J., Geertzen H.G., Straatsburg I.H., van Gulik T.M., van Mourik J.A.,

Thromb Haemost 91:267-275(2004)

Reduction of the inhibitory antibody response to human factor VIII in hemophilia A mice by mutagenesis of the A2 domain B-cell epitope.

Parker E.T., Healey J.F., Barrow R.T., Craddock H.N., Lollar P.,

Blood 104:704-710(2004)

Effect of factor VIIIc levels in pediatric stroke patients.

Cangoz E., Deda G., Akar N.,

Pediatr Hematol Oncol 21:255-260(2004)

High factor VIII (FVIII) levels in venous thromboembolism: role of unbound FVIII.

Schambeck C.M., Grossmann R., Zonnur S., Berger M., Teuchert K., Spahn A., Walter U.,

Thromb Haemost 92:42-46(2004)

Production of transgenic chimeric rabbits and transmission of the transgene through the germline.

Bodo S., Gocza E., Revay T., Hiripi L., Carstea B., Kovacs A., Bodrogi L., Bosze Z.,

Mol Reprod Dev 68:435-440(2004)

Epitope repertoire of human CD4(+) T cells on the A3 domain of coagulation factor VIII.

Reding M.T., Okita D.K., Diethelm-Okita B.M., Anderson T.A., Conti-Fine B.M.,

J Thromb Haemost 2:1385-1394(2004)

High factor VIII levels in venous thromboembolism show linkage to imprinted loci on chromosomes 5 and 11.

Berger M., Mattheisen M., Kulle B., Schmidt H., Oldenburg J., Bickeboller H., Walter U., Lindner T.H., Strauch K., Schambeck C.M.,

Blood 105:638-644(2005)

Fibrin stimulates platelets to increase factor VIIIa binding site expression.

Phillips J.E., Lord S.T., Gilbert G.E.,

J Thromb Haemost 2:1806-1815(2004)

Von Willebrand factor accelerates platelet adhesion and thrombus formation on a collagen surface in platelet-reduced blood under flow conditions.

Tomokiyo K., Kamikubo Y., Hanada T., Araki T., Nakatomi Y., Ogata Y., Jung S.M., Nakagaki T., Moroi M.,

Blood 105:1078-1084(2005)

Surface-exposed hemophilic mutations across the factor VIII C2 domain have variable effects on stability and binding activities.

Spiegel P.C., Murphy P., Stoddard B.L.,

J Biol Chem 279:53691-53698(2004)

T cell recognition of the A2 domain of coagulation factor VIII in hemophilia patients and healthy subjects.

Hu G.L., Okita D.K., Conti-Fine B.M.,

J Thromb Haemost 2:1908-1917(2004)

Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis.

Bank I., Libourel E.J., Middeldorp S., Hamulyak K., van Pampus E.C., Koopman M.M., Prins M.H., van der Meer J., Buller H.R.,

J Thromb Haemost 3:79-84(2005)

Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR.

Kim J.W., Park S.Y., Kim Y.M., Kim J.M., Kim D.J., Ryu H.M.,

Haemophilia 11:38-42(2005)

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

El-Maarri O., Herbiniaux U., Graw J., Schroder J., Terzic A., Watzka M., Brackmann H.H., Schramm W., Hanfland P., Schwaab R., Muller C.R., Oldenburg J.,

J Thromb Haemost 3:332-339(2005)

Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site.

Nogami K., Zhou Q., Wakabayashi H., Fay P.J.,

Blood 105:4362-4368(2005)

Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.

Ahmed R.P., Ivaskevicius V., Kannan M., Seifried E., Oldenburg J., Saxena R.,

Haematologica 90:283-284(2005)

The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.

Scanavini D., Legnani C., Lunghi B., Mingozzi F., Palareti G., Bernardi F.,

Thromb Haemost 93:453-456(2005)

The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism.

Tirado I., Mateo J., Soria J.M., Oliver A., Martinez-Sanchez E., Vallve C., Borrell M., Urrutia T., Fontcuberta J.,

Thromb Haemost 93:468-474(2005)

Thrombophilic polymorphisms and intrauterine growth restriction.

Infante-Rivard C., Rivard G.E., Guiguet M., Gauthier R.,

Epidemiology 16:281-287(2005)

The protective effect of the factor XIII Val34Leu mutation on the risk of deep venous thrombosis is dependent on the fibrinogen level.

Vossen C.Y., Rosendaal F.R.,

J Thromb Haemost 3:1102-1103(2005)

LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.

Zhang B., Kaufman R.J., Ginsburg D.,

J Biol Chem 280:25881-25886(2005)

Na+ site in blood coagulation factor IXa: effect on catalysis and factor VIIIa binding.

Schmidt A.E., Stewart J.E., Mathur A., Krishnaswamy S., Bajaj S.P.,

J Mol Biol 350:78-91(2005)

The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.

Fernandez-Lopez O., Garcia-Lozano J.R., Nunez-Vazquez R., Perez-Garrido R., Nunez-Roldan A.,

Haematologica 90:707-710(2005)

Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.

Acquila M., Pasino M., Lanza T., Molinari A.C., Rosano C., Bicocchi M.P.,

Haematologica 90:997-999(2005)

Identification of a novel immunodominant cytotoxic T lymphocyte epitope derived from human factor VIII in a murine model of hemophilia A.

Wang W., Merchlinsky M., Inman J., Golding B.,

Thromb Res 116:335-344(2005)

A Glu113Ala mutation within a factor VIII Ca2+-binding site enhances cofactor interactions in factor Xase.

Wakabayashi H., Su Y.C., Ahmad S.S., Walsh P.N., Fay P.J.,

Biochemistry 44:10298-10304(2005)

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N., Markoff A., Pollmann H., Nowak-Gottl U., Eisert R., Wermes C., Todorova A., Eigel A., Dworniczak B., Horst J.,

Hum Mutat 26:249-254(2005)

Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A.

Sawecka J., Skulimowska J., Windyga J., Lopaciuk S., Koscielak J.,

Arch Immunol Ther Exp (Warsz) 53:352-356(2005)

Molecular models of the procoagulant factor VIIIa-factor IXa complex.

Autin L., Miteva M.A., Lee W.H., Mertens K., Radtke K.P., Villoutreix B.O.,

J Thromb Haemost 3:2044-2056(2005)

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.

Jayandharan G., Shaji R.V., Baidya S., Nair S.C., Chandy M., Srivastava A.,

Haemophilia 11:481-491(2005)

Characterization of the interaction between the A2 subunit and A1/A3-C1-C2 dimer in human factor VIIIa.

Fay P.J., Smudzin T.M.,

J Biol Chem 267:13246-13250(1992)

Anti-factor VIII antibodies: a 2005 update.

Lavigne-Lissalde G., Schved J.F., Granier C., Villard S.,

Thromb Haemost 94:760-769(2005)

Cysteine-disulfide cross-linking to monitor SNARE complex assembly during endoplasmic reticulum-Golgi transport.

Flanagan J.J., Barlowe C.,

J Biol Chem 281:2281-2288(2006)

Lack of F8 mRNA: a novel mechanism leading to hemophilia A.

El-Maarri O., Singer H., Klein C., Watzka M., Herbiniaux U., Brackmann H.H., Schroder J., Graw J., Muller C.R., Schramm W., Schwaab R., Haaf T., Hanfland P., Oldenburg J.,

Blood 107:2759-2765(2006)

Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A.

Astermark J., Oldenburg J., Pavlova A., Berntorp E., Lefvert A.K.,

Blood 107:3167-3172(2006)

The protein structure and effect of factor VIII.

Fang H., Wang L., Wang H.,

Thromb Res 119:1-13(2007)

A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation.

Parker E.T., Doering C.B., Lollar P.,

J Biol Chem 281:13922-13930(2006)

FVIII production by human lung microvascular endothelial cells.

Jacquemin M., Neyrinck A., Hermanns M.I., Lavend'homme R., Rega F., Saint-Remy J.M., Peerlinck K., Van Raemdonck D., Kirkpatrick C.J.,

Blood 108:515-517(2006)

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations.

Vinciguerra C., Zawadzki C., Dargaud Y., Pernod G., Berger C., Nougier C., Negrier C.,

Thromb Haemost 95:593-599(2006)

Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.

Loreth R.M., El-Maarri O., Schroder J., Budde U., Herrmann F.H., Oldenburg J.,

Thromb Haemost 95:747-748(2006)

On and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivo.

Brandon E., Szul T., Alvarez C., Grabski R., Benjamin R., Kawai R., Sztul E.,

Mol Biol Cell 17:2996-3008(2006)

Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection.

Azimifar S.B., Seyedna S.Y., Zeinali S.,

Am J Hematol 81:335-339(2006)

Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis.

Nossent A.Y., Eikenboom J.C., Vos H.L., Bakker E., Tanis B.C., Doggen C.J., Bertina R.M., Rosendaal F.R.,

Thromb Haemost 95:942-948(2006)

The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients.

David D., Ventura C., Moreira I., Diniz M.J., Antunes M., Tavares A., Araujo F., Morais S., Campos M., Lavinha J., Kemball-Cook G.,

Haematologica 91:840-843(2006)

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Guillet B., Lambert T., d'Oiron R., Proulle V., Plantier J.L., Rafowicz A., Peynet J., Costa J.M., Bendelac L., Laurian Y., Lavergne J.M.,

Hum Mutat 27:676-685(2006)

Factor VIII ectopically targeted to platelets is therapeutic in hemophilia A with high-titer inhibitory antibodies.

Shi Q., Wilcox D.A., Fahs S.A., Weiler H., Wells C.W., Cooley B.C., Desai D., Morateck P.A., Gorski J., Montgomery R.R.,

J Clin Invest 116:1974-1982(2006)

Proteolytic cleavage of factor VIII heavy chain is required to expose the binding-site for low-density lipoprotein receptor-related protein within the A2 domain.

Bovenschen N., van Stempvoort G., Voorberg J., Mertens K., Meijer A.B.,

J Thromb Haemost 4:1487-1493(2006)

Leukemic lymphoblasts, a novel expression site of coagulation factor XIII subunit A.

Kiss F., Hevessy Z., Veszpremi A., Katona E., Kiss C., Vereb G., Muszbek L., Kappelmayer J.N.,

Thromb Haemost 96:176-182(2006)

Formation of tissue factor-factor VIIa-factor Xa complex prevents apoptosis in human breast cancer cells.

Jiang X., Guo Y.L., Bromberg M.E.,

Thromb Haemost 96:196-201(2006)

Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.

Hilbert L., Nurden P., Caron C., Nurden A.T., Goudemand J., Meyer D., Fressinaud E., Mazurier C.,

Thromb Haemost 96:290-294(2006)

Recombinant factor VIII and factor VIII-von Willebrand factor complex do not present danger signals for human dendritic cells.

Pfistershammer K., Stockl J., Siekmann J., Turecek P.L., Schwarz H.P., Reipert B.M.,

Thromb Haemost 96:309-316(2006)

Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women.

Marchetti G., Lunghi B., Legnani C., Cini M., Pinotti M., Mascoli F., Bernard F.,

Haematologica 91:1261-1263(2006)

Sec16 defines endoplasmic reticulum exit sites and is required for secretory cargo export in mammalian cells.

Watson P., Townley A.K., Koka P., Palmer K.J., Stephens D.J.,

Traffic 7:1678-1687(2006)

Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex.

Nyfeler B., Zhang B., Ginsburg D., Kaufman R.J., Hauri H.P.,

Traffic 7:1473-1481(2006)

SNARE status regulates tether recruitment and function in homotypic COPII vesicle fusion.

Bentley M., Liang Y., Mullen K., Xu D., Sztul E., Hay J.C.,

J Biol Chem 281:38825-38833(2006)

Increased levels of coagulation factor VIII in internal carotid artery occlusion.

Paparounas K., Gotsi A., Galiatsou E., Kitsos A., Akritidis N.,

Eur J Neurol 13:e7-8(2006)

von Willebrand factor and factor VIII are independently required to form stable occlusive thrombi in injured veins.

Chauhan A.K., Kisucka J., Lamb C.B., Bergmeier W., Wagner D.D.,

Blood 109:2424-2429(2007)

Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization.

Bhattacharyya D., Glick B.S.,

Mol. Biol. Cell 18:839-849(2007)

Increased factor VIII coagulant activity levels in male carriers of the factor V R2 polymorphism.

Martinelli N., Girelli D., Ferraresi P., Olivieri O., Lunghi B., Manzato F., Corrocher R., Bernardi F.,

Blood Coagul Fibrinolysis 18:125-129(2007)

TRAPPI tethers COPII vesicles by binding the coat subunit Sec23.

Cai H., Yu S., Menon S., Cai Y., Lazarova D., Fu C., Reinisch K., Hay J.C., Ferro-Novick S.,

Nature 445:941-944(2007)

Mechanisms of COPII vesicle formation and protein sorting.

Sato K., Nakano A.,

FEBS Lett 581:2076-2082(2007)

Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis.

Voko Z., Bereczky Z., Katona E., Adany R., Muszbek L.,

Thromb Haemost 97:458-463(2007)

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Renault N.K., Dyack S., Dobson M.J., Costa T., Lam W.L., Greer W.L.,

Eur J Hum Genet 15:628-637(2007)

[A study on the (CA)n in FVIII gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with silver staining].

Zhu C.J., Liu J.Z., Ou W.L., Long G.F., Liang Y., Wang Z.Y., Zheng M.C.,

Zhonghua Er Ke Za Zhi 45:55-58(2007)

Large-scale mapping of human protein-protein interactions by mass spectrometry.

Ewing R.M., Chu P., Elisma F., Li H., Taylor P., Climie S., McBroom-Cerajewski L., Robinson M.D., O'Connor L., Li M., Taylor R., Dharsee M., Ho Y., Heilbut A., Moore L., Zhang S., Ornatsky O., Bukhman Y.V., Figeys D.,

Mol Syst Biol 3:89-89(2007)

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repesse Y., Slaoui M., Ferrandiz D., Gautier P., Costa C., Costa J.M., Lavergne J.M., Borel-Derlon A.,

J Thromb Haemost 5:1469-1476(2007)

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.

Castaman G., Giacomelli S.H., Ghiotto R., Boseggia C., Pojani K., Bulo A., Madeo D., Rodeghiero F.,

Haemophilia 13:311-316(2007)

Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients.

Han J.Y., Lee J.N., Lee S.Y., Kim I.J., Kim C.M.,

Haemophilia 13:331-333(2007)

A role for exposed mannosylations in presentation of human therapeutic self-proteins to CD4+ T lymphocytes.

Dasgupta S., Navarrete A.M., Bayry J., Delignat S., Wootla B., Andre S., Christophe O., Nascimbeni M., Jacquemin M., Martinez-Pomares L., Geijtenbeek T.B., Moris A., Saint-Remy J.M., Kazatchkine M.D., Kaveri S.V., Lacroix-Desmazes S.,

Proc Natl Acad Sci U S A 104:8965-8970(2007)

F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.

Salviato R., Belvini D., Radossi P., Sartori R., Pierobon F., Zanotto D., Zanon E., Castaman G., Gandini G., Tagariello G.,

Haemophilia 13:361-372(2007)

Factor VIII levels in children with ischemic stroke.

Duran R., Biner B., Demir M.,

Clin Appl Thromb Hemost 13:334-335(2007)

[Effect of L-arginine on human coagulant factor VIII gene expression].

Yin J., Shi G.G., Zheng Q.T., Zeng Y., Yao G.F., Lu P.W., Wang X.F., Wang H.,

Zhonghua Xue Ye Xue Za Zhi 28:178-183(2007)

Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A?

Green P., Hill M., Bowen D.J.,

J Thromb Haemost 5:2155-2156(2007)

[Application study on inversion diagnosis of F8 gene in hemophilia A].

Qi L.Y., Jin C.L., Lin C.K., Ren M.H., Dong W.H., Sun K.L.,

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:405-408(2007)

Correlation between von Willebrand factor antigen, von Willebrand factor ristocetin cofactor activity and factor VIII activity in plasma.

Lippi G., Franchini M., Salvagno G.L., Montagnana M., Poli G., Guidi G.C.,

J Thromb Thrombolysis 26:150-153(2008)

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A.

Muhle C., Zenker M., Chuzhanova N., Schneider H.,

Hum Mutat 28:1045-1045(2007)

Long-term expression of von Willebrand Factor by a VSV-G pseudotyped lentivirus enhances the functional activity of secreted B-Domain-deleted Coagulation Factor VIII.

Park S.W., Choi S.Y.,

Mol Cells 24:125-131(2007)

Antihuman factor VIII C2 domain antibodies in hemophilia A mice recognize a functionally complex continuous spectrum of epitopes dominated by inhibitors of factor VIII activation.

Meeks S.L., Healey J.F., Parker E.T., Barrow R.T., Lollar P.,

Blood 110:4234-4242(2007)

Activated protein C resistance test using factor VIII-deficient plasma: a new approach to the venous thrombotic risk?

Andre E., Hacquard M., Alnot Y., de Maistre E., Lecompte T.,

Thromb Haemost 98:693-694(2007)

Haemostatic changes and acquired activated protein C resistance in normal pregnancy.

Mahieu B., Jacobs N., Mahieu S., Naelaerts K., Vertessen F., Weyler J., Jacquemyn Y., Van der Planken M.,

Blood Coagul Fibrinolysis 18:685-688(2007)

The factor VIII C1 domain contributes to platelet binding.

Hsu T.C., Pratt K.P., Thompson A.R.,

Blood 111:200-208(2008)

Variation in 24 hemostatic genes and associations with non-fatal myocardial infarction and ischemic stroke.

Smith N.L., Bis J.C., Biagiotti S., Rice K., Lumley T., Kooperberg C., Wiggins K.L., Heckbert S.R., Psaty B.M.,

J Thromb Haemost 6:45-53(2008)

Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8).

Dai L., Cutler J.A., Savidge G.F., Mitchell M.J.,

J Thromb Haemost 6:193-195(2008)

Requirements for cellular co-trafficking of factor VIII and von Willebrand factor to Weibel-Palade bodies.

van den Biggelaar M., Bierings R., Storm G., Voorberg J., Mertens K.,

J Thromb Haemost 5:2235-2242(2007)

The tertiary structure and domain organization of coagulation factor VIII.

Shen B.W., Spiegel P.C., Chang C.H., Huh J.W., Lee J.S., Kim J., Kim Y.H., Stoddard B.L.,

Blood 111:1240-1247(2008)

Analysing two dinucleotide repeats of FVIII gene in Iranian population.

Rabbani B., Rezaeian A., Khanahmad H., Bagheri R., Kamali E., Zeinali S.,

Haemophilia 13:740-744(2007)

Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism.

Shovlin C.L., Sulaiman N.L., Govani F.S., Jackson J.E., Begbie M.E.,

Thromb Haemost 98:1031-1039(2007)

Absolute annual incidences of first events of venous thromboembolism and arterial vascular events in individuals with elevated FVIII:c. A prospective family cohort study.

Bank I., van de Poel M.H., Coppens M., Hamulyak K., Prins M.H., van der Meer J., Veeger N.J., Buller H.R., Middeldorp S.,

Thromb Haemost 98:1040-1044(2007)

Comparison of the immunogenicity of different therapeutic preparations of human factor VIII in the murine model of hemophilia A.

Delignat S., Dasgupta S., Andre S., Navarrete A.M., Kaveri S.V., Bayry J., Andre M.H., Chtourou S., Tellier Z., Lacroix-Desmazes S.,

Haematologica 92:1423-1426(2007)

Tyr346-->Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A?

Lyall H., Hill M., Westby J., Grimley C., Dolan G.,

Haemophilia 14:78-80(2008)

Localization of the low-density lipoprotein receptor-related protein regions involved in binding to the A2 domain of coagulation factor VIII.

Sarafanov A.G., Makogonenko E.M., Andersen O.M., Mikhailenko I.A., Ananyeva N.M., Khrenov A.V., Shima M., Strickland D.K., Saenko E.L.,

Thromb Haemost 98:1170-1181(2007)

Factor VIII gene haplotypes and linkage disequilibrium for the indirect genetic analysis of hemophilia A in India.

Singh M., Singh P.,

Clin Appl Thromb Hemost 15:334-339(2009)

In vitro cultured progenitors and precursors of cardiac cell lineages from human normal and post-ischemic hearts.

Di Meglio F., Nurzynska D., Castaldo C., Arcucci A., De Santo L., de Feo M., Cotrufo M., Montagnani S., Giordano-Lanza G.,

Eur J Histochem 51:275-282(2007)

Factor VIII bypasses CD91/LRP for endocytosis by dendritic cells leading to T-cell activation.

Dasgupta S., Navarrete A.M., Andre S., Wootla B., Delignat S., Repesse Y., Bayry J., Nicoletti A., Saenko E.L., d'Oiron R., Jacquemin M., Saint-Remy J.M., Kaveri S.V., Lacroix-Desmazes S.,

Haematologica 93:83-89(2008)

A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.

Winter P.C., Egan H., McNulty O., Jones F.G., O'Donnell J., Jenkins P.V.,

Haemophilia 14:394-395(2008)

Cathepsin G, a leukocyte protease, activates coagulation factor VIII.

Gale A.J., Rozenshteyn D.,

Thromb Haemost 99:44-51(2008)

Safety and efficacy of sucrose-formulated full-length recombinant factor VIII: experience in the standard clinical setting.

Musso R., Santagostino E., Faradji A., Iorio A., van der Meer J., Ingerslev J., Lambert T., Maas-Enriquez M., Gorina E.,

Thromb Haemost 99:52-58(2008)

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R., Acquila M., Belvini D., Castaldo G., Garagiola I., Giacomelli S.H., Lombardi A.M., Minuti B., Riccardi F., Salviato R., Tagliabue L., Grandone E., Margaglione M.,

J Hum Genet 53:275-284(2008)

The binding sites for the very low density lipoprotein receptor and low-density lipoprotein receptor-related protein are shared within coagulation factor VIII.

Ananyeva N.M., Makogonenko Y.M., Kouiavskaia D.V., Ruiz J., Limburg V., Meijer A.B., Khrenov A.V., Shima M., Strickland D.K., Saenko E.L.,

Blood Coagul Fibrinolysis 19:166-177(2008)

Antithrombin affects hemostatic response to recombinant activated factor VII in factor VIII deficient plasma.

Szlam F., Taketomi T., Sheppard C.A., Kempton C.L., Levy J.H., Tanaka K.A.,

Anesth Analg 106:719-724(2008)

Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa.

Wakabayashi H., Fay P.J.,

J Biol Chem 283:11645-11651(2008)

The B-cell epitope of the monoclonal anti-factor VIII antibody ESH8 characterized by peptide array analysis.

Albert T., Egler C., Jakuschev S., Schuldenzucker U., Schmitt A., Brokemper O., Zabe-Kuhn M., Hoffmann D., Oldenburg J., Schwaab R.,

Thromb Haemost 99:634-637(2008)

Covalent inactivation of factor VIII antibodies from hemophilia A patients by an electrophilic FVIII Analog.

Planque S., Escobar M.A., Smith K.C., Taguchi H., Nishiyama Y., Donnachie E., Pratt K.P., Paul S.,

J Biol Chem 283:11876-11886(2008)

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.

Ma G.C., Chang S.P., Chen M., Kuo S.J., Chang C.S., Shen M.C.,

Haemophilia 14:787-795(2008)

Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.

Abu-Amero K.K., Hellani A., Al-Mahed M., Al-Sheikh I.,

Haemophilia 14:484-488(2008)

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.

Margaglione M., Castaman G., Morfini M., Rocino A., Santagostino E., Tagariello G., Tagliaferri A.R., Zanon E., Bicocchi M.P., Castaldo G., Peyvandi F., Santacroce R., Torricelli F., Grandone E., Mannucci P.M.,

Haematologica 93:722-728(2008)

Persistent factor VIII-dependent factor X activation on endothelial cells is independent of von Willebrand factor.

Brinkman H.J., van Mourik J.A., Mertens K.,

Blood Coagul Fibrinolysis 19:190-196(2008)

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.

Santacroce R., Santoro R., Sessa F., Iannaccaro P., Sarno M., Longo V., Gallone A., Vecchione G., Muleo G., Margaglione M.,

Blood Coagul Fibrinolysis 19:197-202(2008)

Crystal structure of human factor VIII: implications for the formation of the factor IXa-factor VIIIa complex.

Ngo J.C., Huang M., Roth D.A., Furie B.C., Furie B.,

Structure 16:597-606(2008)

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Casana P., Cabrera N., Cid A.R., Haya S., Beneyto M., Espinos C., Cortina V., Dasi M.A., Aznar J.A.,

Haematologica 93:1091-1094(2008)

Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients.

Casana P., Martinez F., Cabrera N., Cid A.R., Aznar J.A.,

J Thromb Haemost 6:1428-1430(2008)

Detailed mechanisms of the inactivation of factor VIIIa by activated protein C in the presence of its cofactors, protein S and factor V.

Gale A.J., Cramer T.J., Rozenshteyn D., Cruz J.R.,

J Biol Chem 283:16355-16362(2008)

Binding of recombinant human coagulation factor VIII to lipid nanotubes.

Parmenter C.D., Stoilova-McPhie S.,

FEBS Lett 582:1657-1660(2008)

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica.

Salazar-Sanchez L., Chaves L., Cartin M., Schuster G., Wulff K., Schroder W., Herrmann F.H.,

Rev Biol Trop 54:1-11(2006)

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

Sanna V., Zarrilli F., Nardiello P., D'Argenio V., Rocino A., Coppola A., DI Minno G., Castaldo G.,

Haemophilia 14:796-803(2008)

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.

Djambas Khayat C., Salem N., Chouery E., Corbani S., Moix I., Nicolas E., Morris M.A., de Moerloose P., Megarbane A.,

Haemophilia 14:709-716(2008)

A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.

Fogel B.L., Young P., Thompson A.R., Perlman S.,

Neurogenetics 9:215-218(2008)

Factor VIII accelerates proteolytic cleavage of von Willebrand factor by ADAMTS13.

Cao W., Krishnaswamy S., Camire R.M., Lenting P.J., Zheng X.L.,

Proc Natl Acad Sci U S A 105:7416-7421(2008)

Nonclassical anti-C2 domain antibodies are present in patients with factor VIII inhibitors.

Meeks S.L., Healey J.F., Parker E.T., Barrow R.T., Lollar P.,

Blood 112:1151-1153(2008)

Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations.

Boekhorst J., Lari G.R., D'Oiron R., Costa J.M., Novakova I.R., Ala F.A., Lavergne J.M., VAN Heerde W.L.,

Haemophilia 14:729-735(2008)

Aquaporin 2 gene variations, risk of venous thrombosis and plasma levels of von Willebrand factor and factor VIII.

Nossent A.Y., Vos H.L., Rosendaal F.R., Bertina R.M., Eikenboom J.C.,

Haematologica 93:959-960(2008)

Simultaneous detection and epitope mapping of anti-factor VIII antibodies.

Lavigne-Lissalde G., Tarrade C., Lapalud P., Chtourou S., Schved J.F., Granier C., Villard-Saussine S.,

Thromb Haemost 99:1090-1096(2008)

Hemostatic and inflammatory risk factors for intracerebral hemorrhage in a pooled cohort.

Sturgeon J.D., Folsom A.R., Longstreth W.T. Jr., Shahar E., Rosamond W.D., Cushman M.,

Stroke 39:2268-2273(2008)

The role of VWF in the immunogenicity of FVIII.

Lacroix-Desmazes S., Repesse Y., Kaveri S.V., Dasgupta S.,

Thromb Res 122 Suppl 2:S3-6(2008)

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors.

Fidanci I.D., Kavakli K., Ucar C., Timur C., Meral A., Kilinc Y., Sayilan H., Kazanci E., Caglayan S.H.,

Blood Coagul Fibrinolysis 19:383-388(2008)

An observational study of sucrose-formulated recombinant factor VIII for Japanese patients with haemophilia A.

Delumeau J.C., Ikegawa C., Yokoyama C., Haupt V.,

Thromb Haemost 100:32-37(2008)

Gene transfer to hemophilia A mice via oral delivery of FVIII-chitosan nanoparticles.

Bowman K., Sarkar R., Raut S., Leong K.W.,

J Control Release 132:252-259(2008)

Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update.

De Brasi C.D., Bowen D.J.,

J Thromb Haemost 6:1822-1824(2008)

Mass spectrometric kinetic analysis of human tyrosylprotein sulfotransferase-1 and -2.

Danan L.M., Yu Z., Hoffhines A.J., Moore K.L., Leary J.A.,

J Am Soc Mass Spectrom 19:1459-1466(2008)

Interaction of coagulation factor VIII with members of the low-density lipoprotein receptor family follows common mechanism and involves consensus residues within the A2 binding site 484-509.

Ananyeva N.M., Makogonenko Y.M., Sarafanov A.G., Pechik I.V., Gorlatova N., Radtke K.P., Shima M., Saenko E.L.,

Blood Coagul Fibrinolysis 19:543-555(2008)

Utility of an exon 14 BslI polymorphism for improved genetic diagnosis of hemophilia A in Indian population.

Mukundan P., Shetty S., Kulkarni B., Ghosh K.,

Prenat Diagn 28:920-922(2008)

High-resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection.

Machado F.B., Medina-Acosta E.,

Haemophilia 15:297-308(2009)

Detection of large duplications within the factor VIII gene by MLPA.

Rost S., Loffler S., Pavlova A., Muller C.R., Oldenburg J.,

J Thromb Haemost 6:1996-1999(2008)

Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis.

Coulam C.B., Wallis D., Weinstein J., DasGupta D.S., Jeyendran R.S.,

Am J Reprod Immunol 60:426-431(2008)

Localization of human coagulation factor VIII (hFVIII) in transgenic rabbit by FISH-TSA: identification of transgene copy number and transmission to the next generation.

Krylov V., Tlapakova T., Macha J., Curlej J., Ryban L., Chrenek P.,

Folia Biol (Praha) 54:121-124(2008)

Structural basis of cargo membrane protein discrimination by the human COPII coat machinery.

Mancias J.D., Goldberg J.,

EMBO J. 27:2918-2928(2008)

The influence of von Willebrand factor on factor VIII activity measurements.

Butenas S., Parhami-Seren B., Mann K.G.,

J Thromb Haemost 7:132-137(2009)

Risk stratification for inhibitor development at first treatment for severe hemophilia A: a tool for clinical practice.

ter Avest P.C., Fischer K., Mancuso M.E., Santagostino E., Yuste V.J., van den Berg H.M., van der Bom J.G., v Geet C.h., Peerlinck K., Rivard G., Chambost H., Auerswald G., Escuriola Ettinghausen C., Kreuz W., Santagostino E., Mancuso M.E., Gouw S.C., van den Berg H.M., Lee C.A.,

J Thromb Haemost 6:2048-2054(2008)

Human factor VIIIa subunit structure. Reconstruction of factor VIIIa from the isolated A1/A3-C1-C2 dimer and A2 subunit.

Fay P.J., Haidaris P.J., Smudzin T.M.,

J Biol Chem 266:8957-8962(1991)

[Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion].

Yan Z.Y., Liang Y., Yan M., Fan L.K., Xiao B., Hua B.L., Liu J.Z., Zhao Y.Q.,

Zhonghua Yi Xue Za Zhi 88:2672-2674(2008)

Inflammation, hemostasis, and the risk of kidney function decline in the Atherosclerosis Risk in Communities (ARIC) Study.

Bash L.D., Erlinger T.P., Coresh J., Marsh-Manzi J., Folsom A.R., Astor B.C.,

Am J Kidney Dis 53:596-605(2009)

Identification of plasmin-interactive sites in the light chain of factor VIII responsible for proteolytic cleavage at Lys36.

Nogami K., Nishiya K., Saenko E.L., Takeyama M., Ogiwara K., Yoshioka A., Shima M.,

J Biol Chem 284:6934-6945(2009)

Altered bioavailability of platelet-derived factor VIII during thrombocytosis reverses phenotypic efficacy in haemophilic mice.

Damon A.L., Scudder L.E., Gnatenko D.V., Sitaraman V., Hearing P., Jesty J., Bahou W.F.,

Thromb Haemost 100:1111-1122(2008)

Screening for hemophilia A carriers: utility of PCR-RFLP--based polymorphism analysis.

Tasleem Raza S., Husain N., Kumar A.,

Clin Appl Thromb Hemost 15:78-83(2009)

Membrane fusion: grappling with SNARE and SM proteins.

Sudhof T.C., Rothman J.E.,

Science 323:474-477(2009)

A novel informative dinucleotide microsatellite marker located on human factor VIII intron 25.

Machado F.B., Duarte L.P., Medina-Acosta E.,

Haemophilia 15:613-614(2009)

Cleavage at Arg-1689 influences heavy chain cleavages during thrombin-catalyzed activation of factor VIII.

Newell J.L., Fay P.J.,

J Biol Chem 284:11080-11089(2009)

High levels of factor VIII and risk of extra-hepatic portal vein obstruction.

Martinelli I., Primignani M., Aghemo A., Reati R., Bucciarelli P., Fabris F., Battaglioli T., Dell'Era A., Mannucci P.M.,

J Hepatol 50:916-922(2009)

Interrelationship between coagulation factor VII and obesity in diabetes mellitus (type 2).

Karatela R.A., Sainani G.S.,

Diabetes Res Clin Pract 84:e41-4(2009)

Storage and regulated secretion of factor VIII in blood outgrowth endothelial cells.

van den Biggelaar M., Bouwens E.A., Kootstra N.A., Hebbel R.P., Voorberg J., Mertens K.,

Haematologica 94:670-678(2009)

Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.

Wang X., Lu Y., Ding Q., Dai J., Xi X., Wang H.,

Thromb Haemost 101:775-778(2009)

Inhibitors of factor VIII in black patients with hemophilia.

Viel K.R., Ameri A., Abshire T.C., Iyer R.V., Watts R.G., Lutcher C., Channell C., Cole S.A., Fernstrom K.M., Nakaya S., Kasper C.K., Thompson A.R., Almasy L., Howard T.E.,

N Engl J Med 360:1618-1627(2009)

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

Schneppenheim R., Schroder J., Obser T., Oyen F., Schneppenheim S., Oldenburg J.,

Hamostaseologie 29:158-160(2009)

Epitope specificity of anti-factor VIII antibodies from inhibitor positive acquired and congenital haemophilia A patients using synthetic peptides spanning A and C domains.

Gharagozlou S., Sharifian R.A., Khoshnoodi J., Karimi K., Milani M., Okita D.K., Shokri F., Conti-Fine B.M.,

Thromb Haemost 101:834-839(2009)

Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel.

Sirocova N., Tsourea V., Vicol M., Barbacar N., Nakaya S.M., Thompson A.R., Pratt K.P.,

Haemophilia 15:942-951(2009)

Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function.

Markoff A., Gerke V., Bogdanova N.,

Haemophilia 15:932-941(2009)

Intensive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A.

Eckhardt C.L., Menke L.A., van Ommen C.H., van der Lee J.H., Geskus R.B., Kamphuisen P.W., Peters M., Fijnvandraat K.,

J Thromb Haemost 7:930-937(2009)

Risk factors for inhibitor formation in haemophilia: a prevalent case-control study.

Ragni M.V., Ojeifo O., Feng J., Yan J., Hill K.A., Sommer S.S., Trucco M.N., Brambilla D.J., Brettler D., Forand P., Geary P., Ewenstein B., Sweeney C., Aledort L., Seremetis S., McCarthy J., DiMichele D., Goldberg I., Ingram R.,

Haemophilia 15:1074-1082(2009)

Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

Miyata T., Sakai T., Sugimoto M., Naka H., Yamamoto K., Yoshioka A., Fukui H., Mitsui K., Kamiya K., Umeyama H., Iwanaga S.,

Biochemistry 30:11286-11291(1991)

Factor VIII-hydrolyzing IgG in acquired and congenital hemophilia.

Wootla B., Mahendra A., Dimitrov J.D., Friboulet A., Borel-Derlon A., Rao D.N., Uda T., Borg J.Y., Bayry J., Kaveri S.V., Lacroix-Desmazes S.,

FEBS Lett 583:2565-2572(2009)

Improved criterion-referenced assessment in indirect tracking of haemophilia A using a 0.23 cM-resolution dense polymorphic marker set.

Machado F.B., Duarte L.P., Medina-Acosta E.,

Haemophilia 15:1135-1142(2009)

Organisation of human ER-exit sites: requirements for the localisation of Sec16 to transitional ER.

Hughes H., Budnik A., Schmidt K., Palmer K.J., Mantell J., Noakes C., Johnson A., Carter D.A., Verkade P., Watson P., Stephens D.J.,

J. Cell Sci. 122:2924-2934(2009)

[Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A].

Li T., Dai J., Wu J.S., Ding Q.L., Ding K.Y., Zheng C.C., Sun P., Wang X.F.,

Zhonghua Xue Ye Xue Za Zhi 30:150-153(2009)

mTrs130 is a component of a mammalian TRAPPII complex, a Rab1 GEF that binds to COPI-coated vesicles.

Yamasaki A., Menon S., Yu S., Barrowman J., Meerloo T., Oorschot V., Klumperman J., Satoh A., Ferro-Novick S.,

Mol Biol Cell 20:4205-4215(2009)

Factor VIII C1 domain residues Lys 2092 and Phe 2093 contribute to membrane binding and cofactor activity.

Meems H., Meijer A.B., Cullinan D.B., Mertens K., Gilbert G.E.,

Blood 114:3938-3946(2009)

Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification.

Santacroce R., Longo V., Bafunno V., Sessa F., Chetta M., Sarno M., Bukvic N., D'Andrea G., Tomaiuolo M., Margaglione M.,

Genet Test Mol Biomarkers 13:573-576(2009)

Profiling of factor VIII mutations in Korean haemophilia A.

Hwang S.H., Kim M.J., Lim J.A., Kim H.C., Kim H.S.,

Haemophilia 15:1311-1317(2009)

Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.

Coppola A., Margaglione M., Santagostino E., Rocino A., Grandone E., Mannucci P.M., Di Minno G., Scaraggi F.A., Targhetta R., Veneto C., Tagariello G., Sartori R., Musso R., Musso M., Muleo G., Santoro R., Iannaccaro P., Biasoli C., Castaman G.,

J Thromb Haemost 7:1809-1815(2009)

Lack of association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (915G/T) gene polymorphisms and bronchopulmonary dysplasia: a single-center study.

Atac F.B., Ince D.A., Verdi H., Gokmen Z., Yazici A.C., Gulcan H., Tarcan A., Taneri A., Sezgin E., Ozbek N.,

DNA Cell Biol 29:13-18(2010)

High factor VIII levels independently predict venous thromboembolism in cancer patients: the cancer and thrombosis study.

Vormittag R., Simanek R., Ay C., Dunkler D., Quehenberger P., Marosi C., Zielinski C., Pabinger I.,

Arterioscler Thromb Vasc Biol 29:2176-2181(2009)

Kinetics and thermodynamics of interaction of coagulation factor VIII with a pathogenic human antibody.

Dimitrov J.D., Roumenina L.T., Andre S., Repesse Y., Atanasov B.P., Jacquemin M., Saint-Remy J.M., Bayry J., Kaveri S.V., Lacroix-Desmazes S.,

Mol Immunol 47:290-297(2009)

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.

Awidi A., Ramahi M., Alhattab D., Mefleh R., Dweiri M., Bsoul N., Magablah A., Arafat E., Barqawi M., Bishtawi M., Haddadeen E., Falah M., Tarawneh B., Swaidan S., Fauori S.,

Haemophilia 16:136-142(2010)

Is there any correlation between the elevated plasma levels and gene variations of factor VIII in Turkish thrombosis patients?

Ay M., Dolek B., Erdem G., Devecioglu O., Gozukirmizi N.,

Clin Appl Thromb Hemost 17:46-50(2011)

X-linked thrombophilia with a mutant factor IX (factor IX Padua).

Simioni P., Tormene D., Tognin G., Gavasso S., Bulato C., Iacobelli N.P., Finn J.D., Spiezia L., Radu C., Arruda V.R.,

N. Engl. J. Med. 361:1671-1675(2009)

Activated factor X cleaves factor VIII at arginine 562, limiting its cofactor efficiency.

Plantier J.L., Rolli V., Ducasse C., Dargaud Y., Enjolras N., Boukerche H., Negrier C.,

J Thromb Haemost 8:286-293(2010)

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

BRIGHT Consortium, Talmud P.J., Drenos F., Shah S., Shah T., Palmen J., Verzilli C., Gaunt T.R., Pallas J., Lovering R., Li K., Casas J.P., Sofat R., Kumari M., Rodriguez S., Johnson T., Newhouse S.J., Dominiczak A., Samani N.J., Kjeldsen S.,

Am J Hum Genet 85:628-642(2009)

EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.

Zheng C., Liu H.H., Zhou J., Zhang B.,

Blood 115:1081-1087(2010)

A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation.

Borchiellini A., Bicocchi M.P., Aguzzi C., Valpreda A., Valeri F., Beggiato E., Acquila M., Schinco P.C.,

Haemophilia 16:554-555(2010)

Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore.

Abdul-Ghafar A., Bogdanova N., Lim L.C., Zhao Y., Markoff A., Tien S.L.,

Haemophilia 16:551-553(2010)

Interlocus non-random association of multiallelic polymorphisms spanning the coagulation factor VIII gene on human chromosome distalmost Xq28.

Medina-Acosta E.,

Haemophilia 16:525-537(2010)

Acquired haemophilia caused by non-haemophilic factor VIII gene variants.

Tiede A., Eisert R., Czwalinna A., Miesbach W., Scharrer I., Ganser A.,

Ann Hematol 89:607-612(2010)

Characterisation of an antibody specific for coagulation factor VIII that enhances factor VIII activity.

Takeyama M., Nogami K., Matsumoto T., Soeda T., Suzuki T., Hattori K., Shima M.,

Thromb Haemost 103:94-102(2010)

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[Mutation screening of the F VIII gene in 10 hemophilia A families].

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Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.

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Identification and characterization of mutations in the promoter region of the factor VIII gene.

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Screening of intron 1 inversion and three intragenic factor VIII gene polymorphisms in Pakistani hemophilia A families.

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Identification of an ancient haemophilia A splice site mutation.

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Towards automated crystallographic structure refinement with phenix.refine.

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Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

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Factor VIII Interacts with the Endocytic Receptor Low-density Lipoprotein Receptor-related Protein 1 via an Extended Surface Comprising "Hot-Spot" Lysine Residues.

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Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients.

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Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene.

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Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China.

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Comparison of platelet-derived and plasma factor VIII efficacy using a novel native whole blood thrombin generation assay.

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Factor VIII Is Synthesized in Human Endothelial Cells, Packaged in Weibel-Palade Bodies and Secreted Bound to ULVWF Strings.

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F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

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Airway factor XIII associates with type 2 inflammation and airway obstruction in asthmatic patients.

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Desmopressin acetate as a haemostatic elevator in individuals with combined deficiency of factors V and VIII: a clinical trial.

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Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.

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Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

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Galectin-1 and Galectin-3 Constitute Novel-Binding Partners for Factor VIII.

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Evidence That Factor VIII Forms a Bivalent Complex with the Low Density Lipoprotein (LDL) Receptor-related Protein 1 (LRP1): IDENTIFICATION OF CLUSTER IV ON LRP1 AS THE MAJOR BINDING SITE.

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Hui N., Nakamura N., Sonnichsen B., Shima D.T., Nilsson T., Warren G.,

Mol. Biol. Cell 8:1777-1787(1997)

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII.

Amano K., Sarkar R., Pemberton S., Kemball-Cook G., Kazazian H.H. Jr., Kaufman R.J.,

Blood 91:538-548(1998)

Association of a common polymorphism in the factor XIII gene with myocardial infarction.

Kohler H.P., Stickland M.H., Ossei-Gerning N., Carter A., Mikkola H., Grant P.J.,

Thromb Haemost 79:8-13(1998)

Tyrosylprotein sulfotransferase: purification and molecular cloning of an enzyme that catalyzes tyrosine O-sulfation, a common posttranslational modification of eukaryotic proteins.

Ouyang Y.-B., Lane W.S., Moore K.L.,

Proc. Natl. Acad. Sci. U.S.A. 95:2896-2901(1998)

Structure and topography of the membrane-binding C2 domain of factor VIII in the presence of dodecylphosphocholine micelles.

Veeraraghavan S., Baleja J.D., Gilbert G.E.,

Biochem J 332:549-555(1998)

Biosynthesis, assembly and secretion of coagulation factor VIII.

Kaufman R.J., Pipe S.W., Tagliavacca L., Swaroop M., Moussalli M.,

Blood Coagul Fibrinolysis 8 Suppl 2:S3-14(1997)

Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs.

Hay J.C., Klumperman J., Oorschot V., Steegmaier M., Kuo C.S., Scheller R.H.,

J. Cell Biol. 141:1489-1502(1998)

Activation of factor VIII by thrombin increases its affinity for binding to synthetic phospholipid membranes and activated platelets.

Saenko E.L., Scandella D., Yakhyaev A.V., Greco N.J.,

J Biol Chem 273:27918-27926(1998)

The life cycle of coagulation factor VIII in view of its structure and function.

Lenting P.J., van Mourik J.A., Mertens K.,

Blood 92:3983-3996(1998)

Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo.

Pipe S.W., Eickhorst A.N., McKinley S.H., Saenko E.L., Kaufman R.J.,

Blood 93:176-183(1999)

Association of a common polymorphism in the factor XIII gene with venous thrombosis.

Catto A.J., Kohler H.P., Coore J., Mansfield M.W., Stickland M.H., Grant P.J.,

Blood 93:906-908(1999)

Synonyms

Description

KO Status

Drug Information

Protein C activated (Kaketsuken/Teijin)

Antihemophilic factor/von Willebrand factor (CSL Behring)

Antihemophilic factor/von Willebrand factor complex (Human, Grifols Biologicals)

Von Willebrand factor/coagulation factor VIII complex (human, Octapharma)

Human protein C (Baxalta)

Von Willebrand factor (LFB)

Von Willebrand factor (Recombinant)

Factor VIII/von Willebrand factor (Bio Products Laboratory)

Valoctocogene roxaparvovec

Giroctocogene fitelparvovec

SPK-8011

DTX-201

SHP-654

3K3A-APC

SPK-8016

Human von Willebrand factor (Shandong Taibang Biological Products)

AAV2-8-HLP-FVIII-V3 （University College London)

Human von Willebrand factor (Boya Bio-Pharmaceutical)

Factor VIII gene therapy (Novartis)

Factor VIII gene therapy (Chiron)

TB-402

Factor VIII gene therapy (Corautus Genetics)

Human fibrinogen/Human thrombin (Mallinckrodt)

Drotrecogin alfa

References

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A

Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation

Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A

Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A

Three novel point mutations causing haemophilia A

The identification and classification of 41 novel mutations in the factor VIII gene (F8C)

Identification of seven novel mutations of F8C by DHPLC

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins

Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene

Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping

Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene

Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis

Factor VIII inhibitors in mild and moderate-severity haemophilia A

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain

Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation

Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch

A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure

Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family

Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis

Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)

Mutations of the factor VIII gene in Thai hemophilia A patients

Somatic mosaicism in hemophilia A: a fairly common event

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A

Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies

Molecular characterization of haemophilia A in southern Chinese

Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods

Mutations in the FVIII gene in seven families with mild haemophilia A

Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent

CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

Identification of mutations in two families with sporadic hemophilia A