Reference |
Title |
PMID |
|
Alhaq et al, 1999 |
Identification of a novel mutation in a non-Jewish facor XI deficient kindred |
10027710
|
|
Asakai et al, 1987 |
Organization of the Gene for Human factor XI |
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7746
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|
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 |
2813350
|
|
Asakai et al, 1991 |
Factor XI deficiency in Ashkenazi jews in Israel |
2052060
|
|
Asselta et al, 2017 |
Exploring the global landscape of genetic variation in coagulation factor XI deficiency |
28615222
|
|
Au et al, 2003 |
Two Factor XI Mutations in a Chinese Family with Factor XI Deficiency |
14508802
|
|
Badellino & Walsh, 2001 |
Localization of a heparin binding site in the catalytic domain of factor XIa |
11412111
|
|
Baglia & Walsh, 1996 |
A binding site for thrombin in the apple 1 domain of factor XI |
8631976
|
|
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 |
1740464
|
|
Baglia et al, 1993 |
Identification and characterization of a binding site for factor XIIa in the Apple 4 domain of coagulation factor XI |
8440679
|
|
Baglia et al, 2000 |
A binding site for the kringle II domain of prothrombin in the apple 1 domain of factor XI |
10924522
|
|
Baglia et al, 2004 |
Identification of a binding site for glycoprotein Ibalpha in the Apple 3 domain of factor XI |
15317813
|
|
Berman et al, 2000 |
The Protein Data Bank |
10592235
|
|
Bodfish et al, 1991 |
Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymorphism chain reaction |
1762944
|
|
Bolton-Maggs et al, 2004 |
A common ancestral mutation (C128X) occuring in 11 non-Jewish families from the UK with factor XI deficiency |
15140127
|
|
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 |
17971173
|
|
Butler & Parsons, 1990 |
RFLP for intron E of factor XI gene |
1976245
|
|
Cargill et al, 1999 |
Characterization of single-nucleotide polymorphisms in coding regions of human genes |
10391209
|
|
Castaman et al, 2008 |
Factor XI gene mutations in factor XI deficient patients of the Czech Republic. |
18839438
|
|
Castaman et al, 2008 |
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. |
18515884
|
|
Castaman et al, 2013 |
A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency |
23571684
|
|
Cheng et al, 2003 |
Factor XI apple domains and protein dimerization |
14629467
|
|
Colakoglu et al, 2018 |
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families |
27723456
|
|
Dai et al, 2004 |
Severe factor XI deficiency caused by compound heterozygosity |
15180874
|
|
De la Morena Barrio et al, 2019 |
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries |
31043424
|
|
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 |
15060426
|
|
de Raucourt et al, 2008 |
Four novel FXI gene mutations in three factor XI- deficient patients
|
18388506
|
|
Deng et al, 2006 |
Synthesis, SAR exploration, and X-ray crystal structures of factor XIa inhibitors containing an alpha-ketothiazole arginine |
16524727
|
|
Dossenbach-Glaninger & Hopmeier, 2006 |
Coagulation factor XI gene analysis in three factor XI deficient Austrian patients. |
16519703
|
|
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)
|
11564078
|
|
Duga & Salamon, 2013 |
Congenital Factor XI Deficiency: An Update |
23929304
|
|
Duncan et al, 2008 |
Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis |
18446632
|
|
Esteban et al, 2017 |
High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study |
28960694
|
|
Fard-Esfahani et al, 2008 |
Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients |
18005151
|
|
Fradera et al, 2012 |
High-resolution crystal structures of factor XIa coagulation factor in complex with nonbasic high-affinity synthetic inhibitors |
22505407
|
|
Gailani et al, 2007 |
A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect |
17229051
|
|
Germanos-Haddad et al, 2005 |
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency |
15749683
|
|
Girolami et al, 2012 |
A cluster of factor XI‐deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy |
21999818
|
|
Guella 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 |
18327400
|
|
Hancock et al, 1991 |
A Molecular Genetic Study of Factor XI Deficiency |
20188
35
|
|
Hatskelzon, Dvilansky & Holcberg, 1996 |
Factor XI deficiency in a Bedouin family |
8638635
|
|
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 deletion |
15953011
|
|
Ho et al, 1998 |
A binding site for heparin in the apple 3 domain of factor XI |
9632702
|
|
Ho 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 |
10630991
|
|
Iijima et al, 2000 |
A factor XI deiciency associated with a nonsense mutation (Trp501Stop) in the catalytic domain |
11122101
|
|
Imanaka et al, 1995 |
Identification of two novel mutations in non-Jewish factor XI deficiency |
7669672
|
|
Ishikawa 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 |
17581330
|
|
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) |
15842381
|
|
Jerčić et al, 2020 |
Congenital factor XI deficiency caused by a novel F11 missense variant: a case report |
32118380
|
|
Jin et al, 2005 |
Crystal structures of the FXIa catalytic domain in complex with ecotin mutants reveal
substrate-like interactions |
15545266
|
|
Jin et al, 2005 |
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 |
16204896
|
|
Kabsch & Sander, 1983 |
Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features |
6667333
|
|
Karczewski et al 2020 |
The mutational constraint spectrum quantified from variation in 141,456 humans |
32461654
|
|
Karimi et al, 2009 |
Factor XI deficiency in Southern Iran: identification of a novel missense mutation |
18758779
|
|
Kawaguchi et al, 2000 |
A novel type of factor XI deficiency showing compound genetic abnormalities: a n
onsense mutation and an impaired transcription. |
10730000
|
|
Kawankar et al, 2016 |
Clinical and Molecular epidemiology of Factor XI deficiency in India |
27710856
|
|
Kravtsov et al, 2004 |
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain |
15026311
|
|
Kravtsov et al, 2005 |
A classification system for cross-reactive material negative factor XI deficiency
|
15728123
|
|
Kwon 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 |
18832909
|
|
Li et al, 2019 |
Plasma kallikrein structure reveals apple domain disc rotated conformation compared to factor XI |
30801944
|
|
Lin et al, 2020 |
Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations |
32333264
|
|
Lin et al, 2020 |
Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation |
31815744
|
|
Liu et al, 2019 |
Identification of compound heterozygous mutations of F11 gene in a pedigree affected with heriditary coagulation factor XI deficiency |
30950027
|
|
Martincic et al, 1998 |
Identification of Mutations and Polymorphisms in the Factor XI Genes of an African American Family by Dideoxyfingerprinting |
9787168
|
|
McVey et al, 2005 |
Characterisation of blood coagulation factor XI T475I |
15968392
|
|
Meijers et al, 1992 |
Expression of Human Blood Coagulation Factor XI: Characterization of the Defect in Factor XI Type III Deficiency |
1547342
|
|
Mitchell et al, 1999 |
Heterozygous factor XI deficiency associated with three novel mutations |
10606881
|
|
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 |
12716376
|
|
Mitchell et al, 2004 |
An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrela
ted patients |
15226185
|
|
Mitchell et al, 2006 |
Spectrum of factor XI (F11) mutations in the UK population - 116 index cases an
d 140 mutations |
16835901
|
|
Mitchell et al, 2007 |
Characterisation of five factor XI mutations |
17549289
|
|
Mohammed et al, 2018 |
An update on factor XI structure and function |
29223926
|
|
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 |
16085935
|
|
O'Connell et al, 2005 |
Structural of 42 mutations causing factor XI deficiency using homology modeling |
15634276
|
|
Okumura et al, 2006 |
Recurrent mutations of factor XI gene in Japanese |
16787881
|
|
Papagrigoriou et al, 2006 |
Crystal structure of the factor XI zymogen reveals a pathway for transactivation |
16699514
|
|
Peng et al, 2020 |
Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family |
31982874
|
|
Peretz 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 |
8807341
|
|
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 |
9326232
|
|
Peretz et al, 2013 |
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews |
23332144
|
|
Pugh et al, 1995 |
Six Point Mutations That Cause Factor XI Deficiency |
7888672
|
|
Quelin et al, 2004 |
Molecular basis of severe factor XI deficiency in seven families from the west of france. Seven novel mutations, including an ancient Q88X mutation |
14717969
|
|
Quelin et al, 2005 |
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K) |
16079124
|
|
Quelin et al, 2006 |
Identification of five novel mutations in the factor XI gene (F11) of patients wit
h factor XI deficiency |
16607084
|
|
Ramadan et al, 2006 |
A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient |
16905957
|
|
Renne et al, 2002 |
Characterization of the H-kininogen-binding site on factor XI: a comparison of factor XI and plasma prekallikrein |
11733491
|
|
Salloum-Asfar et al, 2018 |
Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency |
29367083
|
|
Salomon et al, 2004 |
New observations on factor XI deficiency |
15479396
|
|
Sato et al, 2000 |
A novel mutation that leads to a congenital factor XI deficiency in a Japanese Family
|
10706758
|
|
Saunders et al, 2005 |
Factor XI deficiency database: an interactive web database of mutations, phenoty
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16086308
|
|
Saunders 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 |
19652879
|
|
Schmidt et al, 2004 |
Structural role of Gly193 in serine proteases |
15090552
|
|
Sennblad et al, 2017 |
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels |
28053049
|
|
Shao et al, 2016 |
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China |
27067486
|
|
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 |
7811996
|
|
Solda et al, 2005 |
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and
factor XI deficiency |
16330457
|
|
Spena et al, 2009 |
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency |
19718484
|
|
Su et al, 2018 |
A novel mutation (Tyr503Cys) in a severe factor XI deficiency |
29538003
|
|
Sun et al, 1999 |
Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX |
10593931
|
|
Sun et al, 1999 |
Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX |
10593931
|
|
Sun et al, 2001 |
Defective binding of factor XI-N248 to activated human platelets |
11418471
|
|
Takamiya et al, 2005 |
Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region |
15996948
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Tarumi et al, 2003 |
Common single nucleotide polymorphism in the promotor region of the human factor XI
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Maximum allowed solvent accessibilities of residues in proteins |
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Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype–phenotype relationship |
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The PAN module: the N-terminal domains of plasminogen and hepatocyte growth factor are homologous with the apple domains of the prekallikrein family and with a novel domain found in numerous nematode proteins |
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A series of PDB-related databanks for everyday needs |
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Compound heterozygosity for two novel mutations in a severe factor XI deficiency |
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First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage |
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Molecular genetic analysis of Factor XI deficiency: Identification of five novel gene alterations and the origin of Type II mutation in por
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|
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Roles of Platelets and Factor XI in the Initiation of Blood Cogulation by Thrombin |
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Why factor XI deficiency is a clinical concern |
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Severe factor XI deficiency in an Arab family associated with a novel mutati
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Identification of two novel factor XI non-sense mutation Trp228Stop and Trp283stop in a Chinese pedigree of congenital factor XI deficiency
|
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FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency |
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Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency |
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The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg |
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Analysis of a pedigree affected with hereditary coagulation factor XI deficiency due to compound heterozygous variants of F11 gene |
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Factor XI (PTA) deficiency in an English-American kindred |
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Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients |
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Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations |
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|
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Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene |
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|
|
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Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in
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Characterization of seven novel mutations causing factor XI deficiency |
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|
