Dysfibrinogenemia
Dysfibrinogenemia is an autosomal dominant or recessive disorder caused by fibrinogen dysfunktion. It may present as hypercoagulability or bleeding disorder.
Systematic
References:
1. |
Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. [^] |
2. |
Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. [^] |
3. |
Lefebvre P et al. (2004) Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk). [^] |
4. |
Neerman-Arbez M et al. (1999) Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. [^] |
5. |
None (1985) The United Kingdom Medical Research Council's glomerulonephritis registry. [^] |
6. |
Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. [^] |
7. |
Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen. [^] |
8. |
Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. [^] |
9. |
Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein. [^] |
10. |
Gralnick HR et al. (1979) Fibrinogen bethesda III: a hypodysfibrinogenemia. [^] |
11. |
Neerman-Arbez M et al. (1999) The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. [^] |
12. |
Carter AM et al. (2000) alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. [^] |
13. |
Collen A et al. (2001) Aberrant fibrin formation and cross-linking of fibrinogen Nieuwegein, a variant with a shortened Aalpha-chain, alters endothelial capillary tube formation. [^] |
14. |
Martinez J et al. (1974) Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism. [^] |
15. |
Drew AF et al. (2001) Wound-healing defects in mice lacking fibrinogen. [^] |
16. |
Bolliger-Stucki B et al. (2001) Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R. [^] |
17. |
Asselta R et al. (2001) Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. [^] |
18. |
Akassoglou K et al. (2002) Fibrin inhibits peripheral nerve remyelination by regulating Schwann cell differentiation. [^] |
19. |
Vlietman JJ et al. (2002) Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene. [^] |
20. |
IMPERATO C et al. (1958) [Congenital hypofibrinogenemia with fibrinoasthenia]. [^] |
21. |
Koopman J et al. (1992) Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA). [^] |
22. |
HASSELBACK R et al. (1963) Congenital hypofibrinogenemia in five members of a family. [^] |
23. |
Fu Y et al. (1992) Carboxy-terminal-extended variant of the human fibrinogen alpha subunit: a novel exon conferring marked homology to beta and gamma subunits. [^] |
24. |
Maekawa H et al. (1992) Fibrinogen Lima: a homozygous dysfibrinogen with an A alpha-arginine-141 to serine substitution associated with extra N-glycosylation at A alpha-asparagine-139. Impaired fibrin gel formation but normal fibrin-facilitated plasminogen activation catalyzed by tissue-type plasminogen activator. [^] |
25. |
Ko YL et al. (2006) Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population. [^] |
26. |
Maekawa H et al. (1991) An A alpha Ser-434 to N-glycosylated Asn substitution in a dysfibrinogen, fibrinogen Caracas II, characterized by impaired fibrin gel formation. [^] |
27. |
Flood VH et al. (2006) The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance. [^] |
28. |
Mourad G et al. (2008) Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. [^] |
29. |
Lee MH et al. (1991) Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization. [^] |
30. |
Yoshida N et al. (1991) Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by leucine. [^] |
31. |
Arocha-Piñango CL et al. (1990) Fibrinogen Lima. A new dysfibrinogenaemia with a high-molecular-weight alpha-chain and effective polymerization. [^] |
32. |
Galanakis DK et al. (1989) Fibrinogen Stony Brook, a heterozygous A alpha 16Arg----Cys dysfibrinogenemia. Evaluation of diminished platelet aggregation support and of enhanced inhibition of fibrin assembly. [^] |
33. |
Hamsten A et al. (1987) Genetic and cultural inheritance of plasma fibrinogen concentration. [^] |
34. |
Kant JA et al. (1985) Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. [^] |
35. |
Siebenlist KR et al. (1988) Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. [^] |
36. |
Reber P et al. (1987) Fibrinogen Bergamo III and fibrinogen Torino: two further variants with hereditary molecular defects in fibrinopeptide A. [^] |
37. |
Alving BM et al. (1987) Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution. [^] |
38. |
Miyata T et al. (1987) Fibrinogens Kawaguchi and Osaka: an amino acid substitution of A alpha arginine-16 to cysteine which forms an extra interchain disulfide bridge between the two A alpha chains. [^] |
39. |
Ebert RF et al. (1986) Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution. [^] |
40. |
Marino MW et al. (1986) Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization. [^] |
41. |
Southan C et al. (1985) Fibrinogen Manchester. Detection of a heterozygous phenotype in the intraplatelet pool. [^] |
42. |
Reber P et al. (1985) Fibrinogen Bergamo I (A alpha 16Arg----Cys): susceptibility towards thrombin following aminoethylation, methylation or carboxamidomethylation of cysteine residues. [^] |
43. |
Soria J et al. (1985) Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe). [^] |
44. |
Aznar J et al. (1974) Fibrinogen Valencia. A new case of congenital dysfibrinogenemia. [^] |
45. |
Samama M et al. () [Congenital and familial dysfibrinogenemia without hemorrhagic tendancy]. [^] |
46. |
Blomback B et al. () Molecular defects and variants of fibrinogen. [^] |
47. |
Marder VJ et al. (1974) Fibrinogen and its derivatives, hereditary and acquired abnormalities. [^] |
48. |
Hampton JW et al. (1972) Fibrinogen and fibrin-stabilizing factor. [^] |
49. |
Ratnoff OD et al. (1973) The genetics of hereditary disorders of blood coagulation. [^] |
50. |
Soria J et al. (1972) Fibrinogen Troyes--fibrinogen Metz. Two new cases of congenital dysfibrinogenemia. [^] |
51. |
Doolittle RF et al. (1974) Platelet and plasma fibrinogens are identical gene products. [^] |
52. |
Verhaeghe R et al. (1974) Fibrinogen 'Leuven', another genetic variant. [^] |
53. |
Crum ED et al. (1974) Fibrinogen Cleveland II. An abnormal fibrinogen with defective release of fibrinopeptide A. [^] |
54. |
Streiff F et al. (1971) [A new case of Congenital and familial dysfibrinogenemia without Hemorrhagic Diathesis]. [^] |
55. |
Beck EA et al. (1965) A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore'). [^] |
56. |
Mammen EF et al. (1969) Congenital dysfibrinogenemia: fibrinogen Detroit. [^] |
57. |
Doolittle RF et al. (1970) The molecular constancy of fibrinopeptides A and B from 125 individual humans. [^] |
58. |
Gralnick HR et al. (1972) Congenital dysfibrinogenemias. [^] |
59. |
Gralnick HR et al. (1971) Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release. [^] |
60. |
Beck EA et al. (1971) Functional evaluation of an inherited abnormal fibrinogen: fibrinogen "Baltimore". [^] |
61. |
Blombäck M et al. (1968) Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen? [^] |
62. |
Forman WB et al. (1968) An inherited qualitative abnormality in plasma fibrinogen: fibrinogen Cleveland. [^] |
63. |
Jackson DP et al. () Congenital disorders of fibrinogen. [^] |
64. |
Von Felten A et al. (1966) Familial disturbance of fibrin monomer aggregation. [^] |
65. |
Henry I et al. (1984) The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2. [^] |
66. |
Crabtree GR et al. (1981) Molecular cloning of cDNA for the alpha, beta, and gamma chains of rat fibrinogen. A family of coordinately regulated genes. [^] |
67. |
Jandrot-Perrus M et al. (1982) Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules. [^] |
68. |
di Minno G et al. (1981) Effects of any epoxymethano stable analogue of prostaglandin endoperoxides (U-46619) on human platelets. [^] |
69. |
Kant JA et al. (1983) The rat fibrinogen genes. Linkage of the A alpha and gamma chain genes. [^] |
70. |
Uzan G et al. (1984) Analysis of fibrinogen genes in patients with congenital afibrinogenemia. [^] |
71. |
Humphries SE et al. (1984) The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter. [^] |
72. |
Soria J et al. (1983) Plasminogen Paris I: congenital abnormal plasminogen and its incidence in thrombosis. [^] |
73. |
Wehinger H et al. (1983) Hereditary hypofibrinogenemia with fibrinogen storage in the liver. [^] |
74. |
Henschen A et al. (1983) Novel structure elucidation strategy for genetically abnormal fibrinogens with incomplete fibrinopeptide release as applied to fibrinogen Schwarzach. [^] |
75. |
Crabtree GR et al. (1982) Coordinate accumulation of the mRNAs for the alpha, beta, and gamma chains of rat fibrinogen following defibrination. [^] |
76. |
Olaisen B et al. (1982) Fibrinogen gamma chain locus is on chromosome 4 in man. [^] |
77. |
Higgins DL et al. (1981) Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of Arg-A alpha 16 by a histidyl residue. Evidence for thrombin-catalyzed hydrolysis at a histidyl residue. [^] |
78. |
McDonagh RP et al. (1980) Fibrinogen Chapel Hill: hypodysfibrinogenemia with a tertiary polymerization defect. [^] |
79. |
Godal HC et al. (1978) Three new cases of an inborn qualitative fibrinogen defect (fibrinogen Oslo II). [^] |
80. |
Suh TT et al. (1995) Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. [^] |
81. |
Thomas A et al. (1994) Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A-455 (HaeIII), C/T-148 (HindIII/AluI), T/G+1689 (AvaII), and BclI (beta-fibrinogen) and TaqI (alpha-fibrinogen), and their detection by PCR. [^] |
82. |
None (1993) Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions. [^] |
83. |
Kudryk B et al. (1976) Fibrinogen Detroit - an abnormal fibrinogen with non-functinal NH2-terminal polymerization domain. [^] |
84. |
Fuchs G et al. (1977) Fibrinogen Marburg a new genetic variant of fibrinogen. [^] |
85. |
Barthels M et al. (1977) [Fibrinogen "Hannover", a further abnormal fibrinogen]. [^] |
86. |
Branson HE et al. (1977) Fibrinogen Seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot. [^] |
87. |
Koopman J et al. (1993) Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia. [^] |
88. |
Fu Y et al. (1995) Fibrinogen alpha genes: conservation of bipartite transcripts and carboxy-terminal-extended alpha subunits in vertebrates. [^] |
89. |
Mosesson MW et al. (1996) The relationship between the fibrinogen D domain self-association/cross-linking site (gammaXL) and the fibrinogen Dusart abnormality (Aalpha R554C-albumin): clues to thrombophilia in the "Dusart syndrome". [^] |
90. |
Brennan SO et al. (1995) Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp). [^] |
91. |
Xiao Q et al. (1998) Fibrinogen deficiency is compatible with the development of atherosclerosis in mice. [^] |
92. |
OMIM.ORG article Omim 134820 [^] |
93. |
Wikipedia article Wikipedia EN (Dysfibrinogenemia) [^] |