Gerinnungsfaktor XII

Binkley KE et al. (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

Houlihan LM et al. (2010) Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

Calafell F et al. (2010) Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

Maas C et al. (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation.

Endler G et al. (2001) Homozygosity for the C-->T polymorphism at nucleotide 46 in the 5' untranslated region of the factor XII gene protects from development of acute coronary syndrome.

Kondo S et al. (1999) Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.

Kanaji T et al. (1998) A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level.

Schloesser M et al. (1995) The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

Hovinga JK et al. (1994) Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site.

Kawashima H et al. (1981) Normal Hageman factor level in 7q deletion syndrome.

De Grouchy J et al. (1968) A case of?6p- chromosomal aberration.

de Grouchy J et al. (1974) Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

Citarella F et al. (1988) Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

Bernardi F et al. (1988) A frequent factor XII gene mutation in Hageman trait.

Miyata T et al. (1989) Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution.

Hofman ZLM et al. (2020) A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.

Dewald G et al. (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

Cichon S et al. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

Duan QL et al. (2009) Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

Bernardi F et al. (1987) Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

Royle NJ et al. (1988) Structural gene encoding human factor XII is located at 5q33-qter.

Josso F et al. (1968) [Probable localisation of a Hageman (factor XII) locus on an autosome].

None (2003) Oscar Ratnoff: his contributions to the golden era of coagulation research.

None (1964) AN ENZYME CASCADE IN THE BLOOD CLOTTING MECHANISM, AND ITS FUNCTION AS A BIOCHEMICAL AMPLIFIER.

Renné T et al. (2005) Defective thrombus formation in mice lacking coagulation factor XII.

Biederman B et al. (1978) Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

None (1978) Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level.

Cool DE et al. (1987) Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.

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