F XI Deficiency Mutation Database©
References

If you find this website useful, please reference our publication, Saunders et al, 2005. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Human Mutation. 2005. 26:192

Dossenbach-Glaninger & Hopmeier 200 Coagulation factor XI gene analysis in three factor XI deficient Austrian patients. Eur J Haematol. 2006 76:317-21.
FXI Biochemistry References
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Baglia et al 2000 A binding site for the kringle II domain of prothrombin in the apple 1 domain of factor XI. J Biol Chem (2000) 275:31954
FXI Biochemistry References
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Badellino & Walsh 2001 Localization of a heparin binding site in the catalytic domain of factor XIa. Biochemistry. 2001 40:7569-80
Baglia and Walsh, 1996 A binding site for thrombin in the apple 1 domain of factor XI. J Biol Chem. 1996 271:3652-8.
Baglia et al 1992 Fine Mapping of the High Molecular Weight Kininogen Binding Site on Blood Coagulation Factor XI Binding Site Blood Coagulation Factor XI th rough the Use of Rationally Designed Synthetic Analogs J Biol Chem (1992) 267:4247
Baglia et al 1993 Identification and characterization of a binding site for factor XIIa in the Apple 4 domain of coagulation factor XI. J Biol Chem (1993) 268:3838
Baglia et al., 2004 Identification of a binding site for glycoprotein Ibalpha in the Apple 3 domain of factor XI. J Biol Chem. 2004 279:45470-6.
Cheng et al 2003 Factor XI apple domains and protein dimerization J Thromb Heam (2003) 1:2340-2347
Ho et al 1998 A binding site for heparin in the apple 3 domain of factor XI. J Biol Chem (1998) 273:16382
Renne et al., 2002 Characterization of the H-kininogen-binding site on factor XI: a comparison of factor XI and plasma prekallikrein. J Biol Chem. 2002 277:4892-9.
Sun et al 1999 Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX. J Biol Chem (1999) 274:36373
Sun et al., 1999 Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX. J Biol Chem. 1999 274:36373-8.
Walsh 2001 Roles of Platelets and Factor XI in the Initiation of Blood Cogulation by Thrombin Throm b Haemost (2001) 86: 75-82
Walsh 2003 Roles of factor XI, platelets and tissue factor-initiated blood coagulation. J Thromb He am (2003) 1:2081-2086
FXI Deficiency References
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Salomon et al, 2004 New observations on factor XI deficiency. Haemophilia. 2004; 10 Suppl 4:184-7.
FXI Sequence References
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Asakai et al 1987 Organization of the Gene for Human factor XI Biochemistry (1987) 26:7221-28
FXI Structure References
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Deng et al., 2006 Synthesis, SAR exploration, and X-ray crystal structures of factor XIa inhibitors c ontaining an alpha-ketothiazole arginine. Bioorg Med Chem Lett. 2006 163049-54.
Jin et al, 2005 Crystal structures of the FXIa catalytic domain in complex with ecotin mutants reveal substrate-like interactions. J Biol Chem. 2005 280:4704-12.
Jin et al, 2005a Mutation of surface residues to promote crystallization of activated factor XI as a complex with benzamidine: an essential step for the iterative structure-based design of factor XI inhibitors. Acta Crystallogr D Biol Crys tallogr. 2005 Oct;61(
Navaneetham et al, 2005 Structural and mutational analyses of the molecular interactions between the catalytic domain of factor XIa and the Kunitz protease inhibit or domain of protease nexin 2. J Biol Chem. 2005 280:36165-75.
Papagrigoriou et al, 2006 Crystal structure of the factor XI zymogen reveals a pathway for transactiv ation. Nat Struct Mol Biol. 2006 13(6):557-82006
Mutation References
ReferenceTitleCitation
Alhaq et al 1999 Idenitification of a novel mutation in a non-Jewish facor XI deficient kindred Bri t J of Haem (1999) 104:44-49
Alhaq et al 2000 Novel mutations in heterozygous factor XI deficiency and hemorrhagic tendency Bloo d (2000) 96:80b
Asakai et al 1989 Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations Proc Natl Acad Sci USA (1989) 86:7667-71
Asakai et al 1991 Factor XI deficiency in Ashkenazi jews in Israel N Eng J Med (1991) 325:153-8
Au et al 2003 Two Factor XI Mutations in a Chinese Family with Factor XI Deficiency Am J Hem (2003) 74:136-138
Bodfish et al 1991 Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymorphism chain reaction Nuc. Res. Acids (1991) 19:6979
Bolton-Maggs et al 1999 Abstract Eight novel mutations in factor XI deficient kindreds in northern eu rope. Thromb Haemost (suppl):1999:P2542.
Bolton-Maggs et al 2003 Abstract Eleven novel mutaitons in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing J Th romb Haem (2003) Suppl:P1687
Bolton-Maggs et al 2004 A common ancestral mutation (C128X) occuring in 11 non-Jewish families from the UK with factor XI deficiency J Thromb Haem (2004) 2:918-2 4
Bozzao C et al 2007 A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency. FEBS J. 2007 Dec;274(23):6128-38.
Butler & Parsons 1990 RFLP for intron E of factor XI gene Nuc. Acids. Res (1990) 18:5327
Cargill et al 1999 Characterization of single-nucleotide polymorphisms in coding regions of human gen es Nature Genetics (1999) 22:231
Castaman G 2008 Factor XI gene mutations in factor XI deficient patients of the Czech Republic. Am J Hematol. 2008 Dec;83(12):916-9
Castaman G et al 2005 Eight Novel Mutations in FXI Gene J Thromb Haemost 2005; 3 (suppl.1): P2040
Castaman G et al 2007 ISTH Abstract: P-S-204 TEN NOVEL MUTATIONS IN FXI GENE J Thromb Haemost 2007; 5 Supplement 2: P-S-204
Castaman G et al 2008 Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. Haematologica. 2008 Jun;93(6):957-8.
Dai et al 2004 Severe factor XI deficiency caused by compound heterozygosity Brit J of Haem (2004) 125:814-820
de Moerloose et al 2004 Severe factor XI deficiency in a lebanese family: identification of a novel m issense mutation (Trp501Cys) in the catalytic domain Blood Coagul Fibrinolysis (2004) 15:269-72
de Raucourt E et al 2008 Four novel FXI gene mutations in three factor XI- deficient patients. Blood Coagul Fibrinolysis. 2008 Apr;19(3):240-2.
Dossenbach-Glaninger and Hopmeier 2 Hereditary factor XI deficiency: Novel and rare mutations in austrian patients Ann Hematol 82 (Sup 1):039
Dossenbach-Glaninger et al 2001 Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G) Brit J of Haem (2001) 114:875-877
Dossenbach-Glaninger et al 2002 Hereditary factor XI deficiency: Novel and rare mutations and polymor phisms in Austrian patients J Lab Med 2002; 26:219
Duncan EM et al 2008 Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. Pathology. 2008 Jun;40(4):401-6.
Fard-Esfahani P et al 2008 Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. Haemophilia. 2008 Jan;14(1):91-5
Gailani D et al 2007 A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. J Thromb Haemost. 2007 Apr;5(4):781-7.
Gailani et al 2001 Abstract Factor XI-Asn248: A variant with a platelet binding defect Thromb Haemost (2001) Suppl July OC1028
Gailani et al 2001 Abstract B Amino acid substitutions in the Factor XI catalytic dokain associated w ith Factor XI deficiency Thromb Haemost (2001) Suppl July P1112
Germanos-Haddad et al 2003 Abstract Molecular analysis of factor XI deficiency in 8 lebanese families: identification of two novel mutations J Throm Haem (2003) 1 Supp1 :P1207
Germanos-Haddad et al 2005 Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. Haematologica. (2005) 90:41 8-9
Guella I et al 2008 Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. Thromb Haemost. 2008 Mar;99(3):523-30.
Hancock et al 1991 A Molecular Genetic Study of Factor XI Deficiency Blood (1991) 77:1942-8
Hill et al 2005 Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deleti on. Br J Haematol. 2005 129:825-9.
Ho DH et al 2000 Factor XI binding to activated platelets is mediated by residues R(250), K(255), F(260), and Q(263) within the apple 3 domain. Biochemistry. 2000 Jan 18;39(2):316-23.
Iijima et al 2000 A factor XI deiciency associated with a nonsense mutation (Trp501Stop) in the catal ytic domain Brit J of Haematology (2000) 111:556-58
Imanaka et al 1995 Identification of two novel mutations in non-Jewish factor XI deficiency Brit J of Haem (1995) 90:916-20
Ishikawa N et al 2007 A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients. Blood Coagul Fibrinolysis. 2007 Jul;18(5):519-23
Jayandharan et al 2005 Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and fa ctor IX deficiency (Phe349Val). J Thromb Haemost. (2005) 3:808-11.
Karimi M et al 2009 Factor XI deficiency in Southern Iran: identification of a novel missense mutation. Ann Hematol. 2009 Apr;88(4):359-63.
Kawaguchi et al 2000 A novel type of factor XI deficiency showing compound genetic abnormalities: a n onsense mutation and an impaired transcription. Int J Hematol. (2000) 71:84-9.
Kravtsov et al 2002 Abstract A model for Autosomal Dominant factor XI Deficiency Blood (2002) 100:2 1a
Kravtsov et al 2004 Dominant factor XI deficiency caused by mutations in the factor XI catalytic doma in Blood (2004) 104:128-134
Kravtsov et al 2005 A classification system for cross-reactive material negative factor XI deficiency . Blood. 2005 Feb 22; [Epub ahead of print]
Kuroda K et al 2005 Functional Analysis o Two Recombinant Missense Mutant Factor XI, F221S ad C212R J Thromb Haemost 2005; 3 (Suppl 1): P1313
Kwon MJ et al 2008 Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83
Martincic et al 1998 Identification of Mutations and Polymorphisms in the Factor XI Genes of an African American Family by Dideoxyfingerprinting Blood (1998) 92:3309-17
Mathonet et al 1999 Abstract E296K substitution in factor XI deficiency. Thromb Haemost (suppl):199 9:P1078
McVey et al, 2005 Characterisation of blood coagulation factor XI T475I. Thromb Haemost. 2005 93:10 82-8
Meijers et al 1992 Expression of Human Blood Coagulation Factor XI: Characterization of the Defect in Factor XI Type III Deficiency Blood (1992) 79:1435-40
Mitchell et al 1999 Heterozygous factor XI deficiency associated with three novel mutations Brit J of Haem (1999) 107:763-5
Mitchell et al 2003 Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography Brit J Haem (2003)121:500-02
Mitchell et al 2004 An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrela ted patients. Blood. 2004 104:2394-6
Mitchell et al., 2006 Spectrum of factor XI (F11) mutations in the UK population - 116 index cases an d 140 mutations. Hum Mutat. 27:829
Mitchell MJ et al 2007 Characterisation of five factor XI mutations. Thromb Haemost. 2007 Jun;97(6):884-9
Morishita et al 2003 Abstract Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families J Thromb Haem (2003) Suppl 1:P1211d
Neerman-Arbez et al 2007 SEVERE FACTOR XI DEFICIENCY IN A JEWISH CHILD CAUSED BY COMPOUND HETEROZYGOTY FOR A NOVEL NONSENSE MUTATION (TYR-14X, EXON 2) AND THE COMMON TYPE II MUTATION (GLU1 17X, EXON 5) J Thromb Haemost 2007; 5 (Suppl 2): PS246
O'Connell et al 2005 Structural of 42 mutations causing factor XI deficiency using homology modeling . J Thromb Haemost (2005) 3:127
Okumura K et al 2006 Recurrent mutations of factor XI gene in Japanese. Int J Hematol. 2006 Jun;83(5):462-3.
Peretz et al 1997 The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin Blood (1991) 90:2654-9
Peretz H et al 1996 A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. Hum Mutat. 1996;8(1):77-8
Pugh et al 1995 Six Point Mutations That Cause Factor XI Deficiency Blood (1995) 85:1509-16
Quelin et al 2004 Molecular basis of severe factor XI deficiency in seven families fromthe west of france. Seven novel mutations,including an ancient Q88X mu tation J Throm Haem (2003) 2:71-76
Quelin et al, 2006 Identification of five novel mutations in the factor XI gene (F11) of patients wit h factor XI deficiency. Blood Coagul Fibrinolysis. 2006; 17:69-73.
Quelin et al., 2005 Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). Haematologica. 2005 Aug;90(8):1149-50.
Quelin F et al 2009 Prospective analysis of factor XI deficiencies in the Marsailles area identified four novel mutations among 12 consecutive unrelated families Blood Coagulation and Fibrinolysis 2009; 20: 84-88
Ramadan KM et al 2006 A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient. Blood Coagul Fibrinolysis. 2006 Sep;17(6):499-502.
Sato et al 2000 A novel mutation that leads to a congenital factor XI deficiency in a Japanese Family Am J Hem (2000) 63:165-9
Saunders et al, 2005 Factor XI deficiency database: an interactive web database of mutations, phenoty pes, and structural analysis tools. Human Mutation (2005) 26:192
Saunders RE et al 2009 Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. Thromb Haemost. 2009 Aug;102(2):287-301.
Schmidt et al 2004 Structural role of Gly193 in serine proteases J Biol Chem (2004) 279:29483-92
Shpilberg et al 1995 One of the Two Common Mutations Causing Factor XI Deficiency in Ashkenazi Jews (Type II) Is also Prevalent in Iraqi Jews, Who Represent the Ancient Gene Pol of Jews Blood (1995) 85:429-32
Solda et al, 2005 A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. Haematologica 90:1716-8.
Spena S et al 2009 Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency. Thromb Haemost. 2009 Sep;102(3):603-6.
Sun et al 2001 Defective binding of factor XI-N248 to activated human platelets Blood (2001)98:125- 9
Takamiya et al, 2005 Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-termi nal region. Haematologica. 2005 90:999
Tarumi et al 2003 Common single nucleotide polymorphism in the promotor region of the human factor XI gene. J Thromb Haemost 1:1854 (2003)
Tsukahara et al 2003 Compound heterozygosity for two novel mutations in a severe factor XI deficiency. Compound heterozygosity for two novel mutations in
Vasileiadis I et al 2009 First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage. Blood Coagul Fibrinolysis. 2009 Jun;20(4):309-13
Ventura et al 2000 Molecular genetic analysis of Factor XI deficiency: Identification of five novel gene alterations and the origin of Type II mutation in por tuguese families Thromb Haemost (2000) 82:833-40
Wang J et al 2009 A case of factor XI deficiency caused by compound heterozygous F11 gene mutation. Haemophilia. 2009 Mar;15(2):603-6.
Wistinghausen et al 1997 Severe factor XI deficiency in an Arab family associated with a novel mutati on in exon 11 Brit J of Haem (1997) 99:575-577
Wu et al 2003 Abstract Identification of two novel factor XI non-sense mutation Trp228Stop and Trp283stop in a Chinese pedigree of congenital factor XI deficiency Zhonghua Xue Ye Xue Za Zhi. 2003 3:126-8
Wu et al 2004 Abstract FXI gene mutations in two pedigrees of congenital clotting factor XI deficienc y Zhonghua Xue Ye Xue Za Zhi. (2004) 25:132-5.
Xie et al, 2005 The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4del gttg Zhonghua Xue Ye Xue Za Zhi. 2005 26:144-7.
Zacharski 1978 Factor XI (PTA) deficiency in an English-American kindred. Haemost. (1978) 39:215-2 2
Zadra et al, 2004 Molecular genetic analysis of severe coagulation factor XI deficiency in six Italia n patients. Haematologica. 2004 89:1332-40.
Zivelin et al 1999 Abstract Identification of 3 novel mutations in the factor XI gene in Jewish patie nts Thromb Haemost (suppl):1999:P893
Zivelin et al 1999 Abstract 2 Identification of 5 novel factor XI mutations in french basques Haematologica 1999 84(Suppl2):0549
Zivelin et al 2001 Abstract Severe Factor XI deficiency cause by a gly555glu mutation encodes for a c ross reacting material positive Factor XI Thromb Haemost (2001) Suppl July P1111
Zivelin et al 2002 Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene Blood (2002) 99:24 48-2454
Zivelin et al 2003 Abstract Substitutions of conserved Gly193 (numbering according to chymotrypsin) located neart the catalytic triad of factors VII, IX and XI yield d ysfunctional proteins probably due to interference with accessibility of the respective substrates. J Thromb Heam (2003) Suppl 1 P1686
Zivelin et al 2003 Abstract B Investigation og Gly555Glu CRM Positive Factor XI Mutant: Structural ro le of Gly555 (193 in chymotrypsin) in Serine Proteases. Blood (2003) 102:301a
Zivelin et al 2004 Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. J Thromb Haemost. 2004 10:1782-9.
Zivelin et al., 1999 Abstract Identification of 5 novel factor XI mutations in french basques Haematologica 1999 84(Suppl2):0549
Zucker M et al 2007 Characterization of seven novel mutations causing factor XI deficiency. Haematologica. 2007 Oct;92(10):1375-80.