Reference |
Title |
PMID |
|
Ahnström et al 2020 |
Partial rescue of naturally occurring active site factor X variants through decreased inhibition by tissue factor pathway inhibitor and antithrombin |
31466141
|
|
Akhavan et al 2007 |
Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect? |
17391309
|
|
Al-Hilali et al 2007 |
Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly |
17393015
|
|
Ameri et al 2007 |
A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX |
18064309
|
|
Arita et al 2018 |
Factor X heterozygous mutation in a patient with potential risk of bleeding |
29879041
|
|
Au et al 2004 |
Two novel factor X gene mutations in a Chinese family with factor X deficiency |
15060750
|
|
Bang et al 2012 |
Successful Liver Transplantation for a Child With Life-Threatening Recurrent Bleeding Episodes Due to Congenital Factor X Deficiency: A Case Report |
22506295
|
|
Bereczky et al 2007 |
Two novel missense mutations (Thr233Met and Trp308Leu) in the factor X gene and their functional consequences in a patient with severe factor X deficiency |
|
|
Bereczky et al 2008 |
Factor X Debrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency |
18245654
|
|
Berman et al 2000 |
The Protein Data Bank |
10592235
|
|
Bernardi et al 1989 |
Partial gene deletion in a family with factor X deficiency |
2567188
|
|
Bernardi et al 1994 |
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→ Pro) |
7981691
|
|
Bezeaud et al 1995 |
Functional consequences of the Ser334-Pro mutation in a human factor X variant (factor X Marseille) |
8529633
|
|
Borhany et al 2018 |
Genotyping of five Pakistani patients with severe inherited factor X deficiency identification of two novel mutations |
30036279
|
|
Bradford et al 2010 |
Regulated cleavage of prothrombin by prothrombinase: repositioning a cleavage site reveals the unique kinetic behavior of the action of prothrombinase on its compound substrate |
19858193
|
|
Brown & Kouides 2008 |
Diagnosis and treatment of inherited factor X deficiency |
19141158
|
|
Camire et al 2001 |
Identification and characterization of mutations leading to factor X deficiency |
|
|
Cargill et al 1999 |
Characterization of single-nucleotide polymorphisms in coding regions of human genes |
10391209
|
|
Chafa et al 2009 |
Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X |
19135706
|
|
Chatterjee et al 2015 |
Inherited Factor X (Stuart-Prower Factor) deficiency and its management. Med J Armed Forces India |
26265825
|
|
Chattopadhyay et al 2009 |
Functional and structural characterization of factor Xa dimer in solution |
19186135
|
|
Cooper et al 1997 |
Inherited factor X deficiency: molecular genetics and pathophysiology |
9198147
|
|
Corsini et al 2015 |
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up |
26083982
|
|
De Stefano et al 1988 |
Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation |
3408671
|
|
Deam et al 2001 |
F X Nottingham and F X Taunton Two Novel Mutations in Factor X Resulting in Loss of Functional Activity and an Interpretation Using Molecular Modelling |
11246545
|
|
Deam et al 2003 |
Factor X Leicester: Ile411Phe associated with a low antigen level and a disproportionately low functional activity of factor X |
12871478
|
|
Deam et al 2004 |
Two new factor X mutations (Pro382Leu and Phe356Cys) associated with low activity and low antigen levels |
15543350
|
|
Ding et al 2013 |
The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade |
23677006
|
|
Epcacan et al 2015 |
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency |
26222694
|
|
Ferrarese et al 2019 |
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition |
30994257
|
|
Fung, Hay and MacGillivray 1985 |
Characterization of an almost full-length cDNA coding for human blood coagulation factor X |
2582420
|
|
Girolami et al 1970 |
A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred |
4989292
|
|
Girolami et al 2004 |
A New Mutation (Arg251 Trp) in the Ca2+ Binding Site of Factor X Protease Domain Appears to be Responsible for the Defect in the Extrinsic Pathway Activation of Factor X Padua |
14979399
|
|
Girolami et al 2009 |
Unexplained Discrepancies in the Activity-Antigen Ratio in Congenital FX Deficiencies With Defects in the Catalytic Domain |
19666942
|
|
Girolami et al 2011 |
Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era |
20546029
|
|
Girolami et al 2018 |
Factor X Friuli Coagulation Disorder: Almost 50 Years Later |
28030967
|
|
Girolami et al 2019 |
Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1) |
30539705
|
|
Hainmann et al 2009 |
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency |
19404516
|
|
Hayashi et al 1998 |
Molecular abnormality observed in a patient with coagulation factor X (FX) deficiency: a novel three-base-pair (CTT) deletion within the polypyrimidine tract of the FX intron D |
9734641
|
|
Herrmann et al 2005 |
Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage |
15644837
|
|
Herrmann et al 2006 |
Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene |
16919077
|
|
Hougie, Barrow & Graham 1957 |
Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency |
13406063
|
|
Hu et al 2017 |
Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway |
28576875
|
|
Iijima et al 2001 |
A Dysfunctional Factor X (Factor X Kurayoshi) with a Substitution of Arg139 for Ser at the Carboxyl-Terminus of the Light Chain |
11248292
|
|
Ingerslev et al 2007 |
Severe factor X deficiency in a pair of siblings: clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment |
17498086
|
|
Isshiki et al 2005 |
Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X |
15650540
|
|
James, Girolami & Fair 1991 |
Molecular Defect in Coagulation Factor X Friuli Results From a Substitution of Serine for Proline at Position 343 |
1985698
|
|
Jayandharan et al 2005 |
Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T fi G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin |
15892863
|
|
Jin et al 2018 |
A novel factor X mutation Cys81 by Arg and a reported factor VII polymorphism Arg353 replaced by Gln co-occured in a patient |
29251640
|
|
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 2008 |
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency |
18403394
|
|
Karimi et al 2012 |
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran |
21854511
|
|
Kim et al 1995 |
Factors X Wenatchee I and II: compound heterozygosity involving two variant proteins |
7605799
|
|
Kim, Thompson & James 1995 |
Factor X Ketchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain |
7860069
|
|
Krishnaswamy 2013 |
The transition of prothrombin to thrombin |
23809130
|
|
Kulkarni et al 2014 |
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review |
25275492
|
|
Leytus et al 1986 |
Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C |
3768336
|
|
Liang et al 2013 |
Six novel missense mutations causing factor X deficiency and application of thrombin generation test |
23664564
|
|
Livnat et al 2011 |
Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry |
22008904
|
|
Lu et al 2020 |
A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree |
32599596
|
|
Marchetti et al 1995 |
Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glul02Lys) in the second EGF-like domain |
7669671
|
|
Matsuo et al 2017 |
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage |
28302935
|
|
Menegatti and Peyvandi 2009 |
Factor X Deficiency |
19598069
|
|
Menegatti et al 2004 |
A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency |
15307115
|
|
Messier et al 1996 |
Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X |
8845463
|
|
Millar et al 2000 |
Molecular analysis of the genotype-phenotype relationship in factor X deficiency |
10746568
|
|
Mitchell et al 2019 |
Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency |
30507709
|
|
Miyata et al 1998 |
Factors X Nice I and II: Two Novel Missense Mutations (Met-40Val and Pro304Ser) in Patient with Coagualtion Factor X Deficiency |
9799000
|
|
Miyata et al 1998 |
Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively |
9531027
|
|
Morishita et al 2001 |
Molecular genetic analysis of factor X deficiency (factor X Ohmura): identification of a novel gene alteration in Japanese family |
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|
Mota et al 2010 |
Molecular basis of factor X deficiency cases from India |
20331754
|
|
Nöbauer-Huhmann et al 1998 |
Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys) |
9622212
|
|
Odom et al 1994 |
Five novel point mutations: two causing haemophilia B and three causing factor X deficiency |
8028609
|
|
Othman et al 2019 |
Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade |
31662920
|
|
Paraboschi et al 2020 |
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease |
31699787
|
|
Pavlova et al 2015 |
Congenital combined deficiency of coagulation factors VII and X – different genetic mechanisms |
25582404
|
|
Perry 1997 |
Factor X and its deficiency states |
27214799
|
|
Peyvandi et al 2002 |
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency |
12028042
|
|
Pinotti et al 2002 |
Reduced Activation of the Gla19Ala FX Variant via the Extrinsic Coagulation Pathway Results in Symptomatic CRMred FX Deficiency |
12195695
|
|
Pinotti et al 2003 |
Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency |
12574802
|
|
Pinotti et al 2004 |
Molecular characterization of factor X deficiency associated with borderline plasma factor X levels |
15075089
|
|
Rath et al 2015 |
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies |
26540129
|
|
Rauch et al 2011 |
Factor X deficiency and intracranial bleeding: who is at risk? |
21682820
|
|
Reddy et al 1989 |
Molecular characterization of human factor X San Antonio |
2790181
|
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Rudolph et al 1996 |
Factor X St. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein |
8910490
|
|
Shen et al 2004 |
A novel mutation with Ins C (882-883) of the factor X gene in a Taiwanese Chinese factor X–deficient family |
14748350
|
|
Shetty, Mota & Ghosh 2010 |
Modulation of severity of clinical bleeding by co-inherited thrombophilia is also true for severe factor X deficiency |
19900433
|
|
Shikata et al 2004 |
Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and γ-glutamyl carboxylase) gene variants with warfarin sensitivity |
14656880
|
|
Shinohara et al 2008 |
A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu |
18270656
|
|
Simioni et al 2001 |
A Dysfunctional Factor X (Factor X San Giovanni Rotondo) Present at Homozygous and Double Heterozygous Level: Identification of a Novel Microdeletion (delC556) and Missense Mutation (Lys408→Asn) in the Factor X Gene: A Study of An Italian F |
11248282
|
|
Sun et al 2016 |
A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity |
26708756
|
|
Tan et al 2012 |
Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes |
22126652
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Tien et al 2013 |
Maximum allowed solvent accessibilities of residues in proteins |
24278298
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Todd et al 2006 |
Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain |
17083512
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Togashi et al 2020 |
Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate |
31667683
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Touw et al 2015 |
A series of PDB-related databanks for everyday needs |
25352545
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Uprichard & Perry 2002 |
Factor X Deficiency |
12127953
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van Dievoet et al 2019 |
A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature |
30507056
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Vanden Hoek et al 2012 |
Coagulation factor X Arg386 specifically affects activation by the intrinsic pathway: a novel patient mutation |
23039000
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Venkateswarlu et al 2002 |
Structure and Dynamics of Zymogen Human Blood Coagulation Factor X |
11867437
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Vianello et al 2001 |
A New Factor X Defect (Factor X Padua 3): A Compound Heterozygous Between True Deficiency (Gly380→Arg) and an Abnormality (Ser334→Pro) |
11728527
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Vianello et al 2003 |
A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain |
12945883
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Wallmark et al 1991 |
Molecular defect (Gla 26-Asp) and its functional consequences in a hereditary FX deficiency (factor X Malmo 4) |
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Wallmark et al 1991 |
Molecular defect in factor X ÖckerÖ a mild congenital factor X deficiency |
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Wang et al 2004 |
Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene |
15569527
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Wang et al 2005 |
Factor X Shanghai and disruption of translocation to the endoplasmic reticulum |
16330440
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Wang et al 2005 |
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree |
15660986
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Wang et al 2015 |
A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency |
26309706
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Watzke et al 1990 |
Molecular Defect (Gla+14 +Lys) and Its Functional Consequences in a Hereditary Factor X Deficiency (Factor X “Vorarlberg”) |
1973167
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Factor X Santo Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion |
1939653
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Molecular and in vitro expression of a hereditary CRM-negative factor X variant, FX Vienna |
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Wieland et al 1991 |
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism |
1997381
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Yin, Wang & Wang 2001 |
Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene |
11758231
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Zama et al 1999 |
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo) |
10468877
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Zheng et al 2011 |
Congenital combined deficiency of factor VII and X in a patient due to accidental diphacinone intoxication |
21544315
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Zhou et al 2013 |
Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del |
22931370
|
|
Zivelin et al 2003 |
Cys61stop is the first identified nonsense mutation in the factor X gene causing severe factor X deficiency in 3 unrelated homozygotes of Arab origin |
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