Dysfibrinogenemia

Doolittle RF et al. (1970) The molecular constancy of fibrinopeptides A and B from 125 individual humans.

di Minno G et al. (1981) Effects of any epoxymethano stable analogue of prostaglandin endoperoxides (U-46619) on human platelets.

Jandrot-Perrus M et al. (1982) Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules.

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.

Henry I et al. (1984) The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.

Von Felten A et al. (1966) Familial disturbance of fibrin monomer aggregation.

Jackson DP et al. () Congenital disorders of fibrinogen.

Forman WB et al. (1968) An inherited qualitative abnormality in plasma fibrinogen: fibrinogen Cleveland.

Blombäck M et al. (1968) Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen?

Beck EA et al. (1971) Functional evaluation of an inherited abnormal fibrinogen: fibrinogen "Baltimore".

Gralnick HR et al. (1971) Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release.

Gralnick HR et al. (1972) Congenital dysfibrinogenemias.

Kant JA et al. (1983) The rat fibrinogen genes. Linkage of the A alpha and gamma chain genes.

Mammen EF et al. (1969) Congenital dysfibrinogenemia: fibrinogen Detroit.

Beck EA et al. (1965) A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore').

Streiff F et al. (1971) [A new case of Congenital and familial dysfibrinogenemia without Hemorrhagic Diathesis].

Crum ED et al. (1974) Fibrinogen Cleveland II. An abnormal fibrinogen with defective release of fibrinopeptide A.

Verhaeghe R et al. (1974) Fibrinogen 'Leuven', another genetic variant.

Doolittle RF et al. (1974) Platelet and plasma fibrinogens are identical gene products.

Soria J et al. (1972) Fibrinogen Troyes--fibrinogen Metz. Two new cases of congenital dysfibrinogenemia.

Ratnoff OD et al. (1973) The genetics of hereditary disorders of blood coagulation.

Hampton JW et al. (1972) Fibrinogen and fibrin-stabilizing factor.

Marder VJ et al. (1974) Fibrinogen and its derivatives, hereditary and acquired abnormalities.

Suh TT et al. (1995) Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice.

Xiao Q et al. (1998) Fibrinogen deficiency is compatible with the development of atherosclerosis in mice.

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).

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".

Fu Y et al. (1995) Fibrinogen alpha genes: conservation of bipartite transcripts and carboxy-terminal-extended alpha subunits in vertebrates.

Koopman J et al. (1993) Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.

Branson HE et al. (1977) Fibrinogen Seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot.

Barthels M et al. (1977) [Fibrinogen "Hannover", a further abnormal fibrinogen].

Fuchs G et al. (1977) Fibrinogen Marburg a new genetic variant of fibrinogen.

Kudryk B et al. (1976) Fibrinogen Detroit - an abnormal fibrinogen with non-functinal NH2-terminal polymerization domain.

None (1993) Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions.

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.

Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.

Godal HC et al. (1978) Three new cases of an inborn qualitative fibrinogen defect (fibrinogen Oslo II).

McDonagh RP et al. (1980) Fibrinogen Chapel Hill: hypodysfibrinogenemia with a tertiary polymerization defect.

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.

Olaisen B et al. (1982) Fibrinogen gamma chain locus is on chromosome 4 in man.

Crabtree GR et al. (1982) Coordinate accumulation of the mRNAs for the alpha, beta, and gamma chains of rat fibrinogen following defibrination.

Henschen A et al. (1983) Novel structure elucidation strategy for genetically abnormal fibrinogens with incomplete fibrinopeptide release as applied to fibrinogen Schwarzach.

Wehinger H et al. (1983) Hereditary hypofibrinogenemia with fibrinogen storage in the liver.

Soria J et al. (1983) Plasminogen Paris I: congenital abnormal plasminogen and its incidence in thrombosis.

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.

Uzan G et al. (1984) Analysis of fibrinogen genes in patients with congenital afibrinogenemia.

Carter AM et al. (2000) alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism.

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.

HASSELBACK R et al. (1963) Congenital hypofibrinogenemia in five members of a family.

Koopman J et al. (1992) Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).

IMPERATO C et al. (1958) [Congenital hypofibrinogenemia with fibrinoasthenia].

Vlietman JJ et al. (2002) Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene.

Akassoglou K et al. (2002) Fibrin inhibits peripheral nerve remyelination by regulating Schwann cell differentiation.

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.

Bolliger-Stucki B et al. (2001) Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R.

Drew AF et al. (2001) Wound-healing defects in mice lacking fibrinogen.

Martinez J et al. (1974) Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism.

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.

Samama M et al. () [Congenital and familial dysfibrinogenemia without hemorrhagic tendancy].

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.

Gralnick HR et al. (1979) Fibrinogen bethesda III: a hypodysfibrinogenemia.

Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen.

Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

None (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.

Neerman-Arbez M et al. (1999) Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.

Lefebvre P et al. (2004) Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Ko YL et al. (2006) Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population.

Blomback B et al. () Molecular defects and variants of fibrinogen.

Aznar J et al. (1974) Fibrinogen Valencia. A new case of congenital dysfibrinogenemia.

Soria J et al. (1985) Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe).

Reber P et al. (1985) Fibrinogen Bergamo I (A alpha 16Arg----Cys): susceptibility towards thrombin following aminoethylation, methylation or carboxamidomethylation of cysteine residues.

Southan C et al. (1985) Fibrinogen Manchester. Detection of a heterozygous phenotype in the intraplatelet pool.

Marino MW et al. (1986) Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization.

Ebert RF et al. (1986) Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution.

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.

Alving BM et al. (1987) Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution.

Reber P et al. (1987) Fibrinogen Bergamo III and fibrinogen Torino: two further variants with hereditary molecular defects in fibrinopeptide A.

Siebenlist KR et al. (1988) Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules.

Kant JA et al. (1985) Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.

Hamsten A et al. (1987) Genetic and cultural inheritance of plasma fibrinogen concentration.

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.

Arocha-Piñango CL et al. (1990) Fibrinogen Lima. A new dysfibrinogenaemia with a high-molecular-weight alpha-chain and effective polymerization.

Yoshida N et al. (1991) Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by leucine.

Lee MH et al. (1991) Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization.

Mourad G et al. (2008) Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain.

Flood VH et al. (2006) The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.

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.

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.

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