Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency

British Journal of Haematology

Volumn 117, Issue 3, 2002, Pages 685-692

  Peyvandi, Flora ^a,d   Menegatti, Marzia ^a   Santagostino, Elena ^a   Akhavan, Sepideh ^a   Uprichard, James ^b   Perry, David J ^b   Perkins, Stephen J ^c   Mannucci, Pier M ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

FX deficiency; FX deficiency phenotype analysis; FX mutations

Indexed keywords

ARGININE; ASPARTIC ACID; ENDOTHELIAL CELL GROWTH FACTOR; GLYCINE; HISTIDINE; TYROSINE; VITAMIN K GROUP;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; ENZYME ACTIVE SITE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; IRAN; KNOCKOUT MOUSE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING;

EID: 0036104076     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03486.x     Document Type: Article

References (34)

1. Molecular genetic analysis of an inherited factor X deficiency
2. X-ray structure of active site-inhibited clotting factor Xa. Implications for drug design and substrate recognition
3. Inherited factor X deficiency: Molecular genetics and pathophysiology
4. FX Nottingham and FX Taunton: Two novel mutations in factor X resulting in loss of functional activity and an interpretation using molecular modelling
5. Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice
6. The molecular basis of blood coagulation
7. Molecular basis of gamma-carboxylation - Role of the propeptide in the vitamin K-dependent proteins
8. Identification of 15 different candidate casual point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene
9. Haemophilia B: Database of point mutations and short additions and deletions (5th edn)
10. A dysfunctional factor X (Factor X Kurayoshi) with a substitution of Arg 139 for Ser at the carboxyl-terminus of the light chain
11. Dictionary of protein secondary structure: Pattern recognition of hydrogen-bonded and geometrical features
12. Structural basis for chemical inhibition of human blood coagulation factor Xa
13. Prevalence of bleeding manifestations, hepatitis and alloantibodies to von Willebrand factor in 385 Iranian patients with type 3 von Willebrand disease
14. The interpretation of protein structures: Estimation of static accessibility
15. Gene for human factor X: A blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C
16. Crystal structures of human factor Xa complexed with potent inhibitors
17. Molecular analysis of genotype-phenotype relationship in factor X deficiency
18. Protein C Osaka 10 with aberrant propeptide processing: Loss of anticoagulant activity due to amino acid substitution in the protein C precursor
19. Factor X Nice I and II: Two novel missense mutations (Met-40Val and Pro304Ser) in patient with coagulation factor X deficiency
20. 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
21. Factor X Frankfurt I: Molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys)
22. Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction
23. Structure of human des(1-45) factor Xa at 2.2 Å resolution
24. Factor X and its deficiency states
25. Rare coagulation disorders
26. Congenital factor X deficiency: Spectrum of bleeding symptoms in 32 Iranian patients
27. Protein C deficiency: A database of mutations
28. The definition of topological equivalence in homologous and analogous structures: A procedure involving a comparison of local properties and relationships
29. 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 (Lys (408) → Asn) in the factor X gene. A study of an Italian family
30. The propeptides of the vitamin K-dependent proteins possess different affinities for the vitamin K-dependent carboxylase
31. Amino acids responsible for reduced affinities of vitamin K-dependent propeptides for the carboxylase
32. Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties
33. A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo)