fibrinogen gamma chain
The FGG gene encodes the gamma component of fibrinogen. Mutations cause various recessive or dominant disorders of bleeding or recurrent thrombosis.
Genetests:
Related Diseases:
References:
1. |
Crabtree GR et al. (1982) Organization of the rat gamma-fibrinogen gene: alternative mRNA splice patterns produce the gamma A and gamma B (gamma ') chains of fibrinogen.
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2. |
Ebert RF et al. (1988) Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit.
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3. |
Yoshida N et al. (1988) An apparently higher molecular weight gamma-chain variant in a new congenital abnormal fibrinogen Tochigi characterized by the replacement of gamma arginine-275 by cysteine.
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4. |
Reber P et al. (1986) Three abnormal fibrinogen variants with the same amino acid substitution (gamma 275 Arg----His): fibrinogens Bergamo II, Essen and Perugia.
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5. |
Reber P et al. (1986) Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization.
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6. |
Yoshida N et al. (1986) A lower molecular weight gamma-chain variant in a congenital abnormal fibrinogen (Kyoto).
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7. |
Ebert RF et al. (1985) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization.
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8. |
Budzynski AZ et al. (1974) Defect in the gamma polypeptide chain of a congenital abnormal fibrinogen (Paris I).
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9. |
Fornace AJ et al. (1984) Structure of the human gamma-fibrinogen gene. Alternate mRNA splicing near the 3' end of the gene produces gamma A and gamma B forms of gamma-fibrinogen.
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10. |
Hawiger J et al. (1982) gamma and alpha chains of human fibrinogen possess sites reactive with human platelet receptors.
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11. |
Brook JG et al. (1983) Fibrinogen "Haifa" - a new fibrinogen variant. A case report.
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12. |
Matsuda M et al. (1983) "Fibrinogen Tokyo II". An abnormal fibrinogen with an impaired polymerization site on the aligned DD domain of fibrin molecules.
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13. |
Bolliger-Stucki B et al. (2001) Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R.
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14. |
Mosesson MW et al. (1995) The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (gamma 275 Arg-->Cys).
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15. |
Rosenberg JB et al. (1993) Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.
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16. |
Okumura N et al. (1996) Fibrinogen Matsumoto I: a gamma 364 Asp>His (GAT>CAT) substitution associated with defective fibrin polymerization.
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17. |
Okumura N et al. (1997) Severely impaired polymerization of recombinant fibrinogen gamma-364 Asp --> His, the substitution discovered in a heterozygous individual.
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18. |
Asselta R et al. (2000) Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.
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19. |
Margaglione M et al. (2000) A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.
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20. |
Lounes KC et al. (2000) Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a".
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21. |
Mullin JL et al. (2002) Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting.
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22. |
Keller MA et al. (2005) Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation.
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23. |
Liu W et al. (2006) Fibrin fibers have extraordinary extensibility and elasticity.
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24. |
Spena S et al. (2007) Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.
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25. |
Yamazumi K et al. (1988) Normal plasmic cleavage of the gamma-chain variant of "fibrinogen Saga" with an Arg-275 to His substitution.
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26. |
Martinez J et al. (1974) Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism.
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27. |
Kant JA et al. (1985) Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.
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28. |
Beck EA et al. (1965) A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore').
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29. |
Olaisen B et al. (1982) Fibrinogen gamma chain locus is on chromosome 4 in man.
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30. |
Wassel CL et al. (2011) Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
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31. |
Haverkate F et al. (1995) Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.
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32. |
Brown CH et al. (1975) Defective alpha-polymerization in the conversion of fibrinogen Baltimore to fibrin.
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33. |
Mosesson MW et al. (1976) Studies on the structural abnormality of fibrinogen Paris I.
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34. |
Yoshida N et al. (1992) Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma arginine-275 by histidine has an apparently higher molecular weight gamma-chain variant.
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35. |
Castaman G et al. (1992) Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia.
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36. |
Yoshida N et al. (1992) Characterization of an abnormal fibrinogen Osaka V with the replacement of gamma-arginine 375 by glycine. The lack of high affinity calcium binding to D-domains and the lack of protective effect of calcium on fibrinolysis.
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37. |
Koopman J et al. (1991) A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization.
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38. |
Bantia S et al. (1990) Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly--Val (GGC--GTC) mutation.
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39. |
Bantia S et al. (1990) Polymerization defect of fibrinogen Baltimore III due to a gamma Asn308----Ile mutation.
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40. |
Yamazumi K et al. (1989) A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi.
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41. |
Siebenlist KR et al. (1989) The polymerization of fibrin prepared from fibrinogen Haifa (gamma 275Arg----His).
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42. |
Schmelzer CH et al. (1989) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma 275 (Arg----Cys) substitution.
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43. |
Fernández FJ et al. (1989) Fibrinogen Sevilla, a congenital dysfibrinogenemia characterized by an abnormal monomer aggregation and a defective plasmin lysis.
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44. |
Miyata T et al. (1989) Fibrinogen Nagoya, a replacement of glutamine-329 by arginine in the gamma-chain that impairs the polymerization of fibrin monomer.
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45. |
Terukina S et al. (1989) Fibrinogen Kyoto III: a congenital dysfibrinogen with a gamma aspartic acid-330 to tyrosine substitution manifesting impaired fibrin monomer polymerization.
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46. |
Terukina S et al. (1988) Substitution of gamma Arg-275 by Cys in an abnormal fibrinogen, "fibrinogen Osaka II". Evidence for a unique solitary cystine structure at the mutation site.
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47. |
Yoshida N et al. (1988) Characterization of an apparently lower molecular weight gamma-chain variant in fibrinogen Kyoto I. The replacement of gamma-asparagine 308 by lysine which causes accelerated cleavage of fragment D1 by plasmin and the generation of a new plasmin cleavage site.
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48. |
Rixon MW et al. (1985) Nucleotide sequence of the gene for the gamma chain of human fibrinogen.
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49. |
NCBI article
NCBI 2266
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50. |
OMIM.ORG article
Omim 134850
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51. |
Orphanet article
Orphanet ID 121821
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52. |
Wikipedia article
Wikipedia EN (Fibrinogen_gamma_chain)
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Update: Aug. 14, 2020