Dysfibrinogenemia

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

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

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

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

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

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

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

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

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

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

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.

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

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.

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

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

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

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.

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

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

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

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

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

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.

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.

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

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.

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gralnick HR et al. (1972) Congenital dysfibrinogenemias.

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

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

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

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

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

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

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

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.

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

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

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

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

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.

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

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

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

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

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

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.

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

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

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

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.

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

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

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

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

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

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

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

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".

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).

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

OMIM.ORG article

Wikipedia article