Literature DB >> 19350124

Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).

Asier Jayo1, Erin Arnold, Consuelo González-Manchón, David Green, Susan T Lord.   

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Year:  2009        PMID: 19350124      PMCID: PMC2965352     

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN: 0340-6245            Impact factor:   5.249


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  12 in total

1.  Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization.

Authors:  V M Homer; J L Mullin; S O Brennan; A Barr; P M George
Journal:  J Thromb Haemost       Date:  2003-06       Impact factor: 5.824

2.  Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation.

Authors:  Stephen O Brennan; Michael W Mosesson; Robin Lowen; Christopher Frantz
Journal:  Thromb Haemost       Date:  2006-07       Impact factor: 5.249

3.  Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T.

Authors:  C Attanasio; P de Moerloose; S E Antonarakis; M A Morris; M Neerman-Arbez
Journal:  Blood       Date:  2001-03-15       Impact factor: 22.113

4.  Functional analysis of the fibrinogen Aalpha Thr312Ala polymorphism: effects on fibrin structure and function.

Authors:  Kristina F Standeven; Peter J Grant; Angela M Carter; Thomas Scheiner; John W Weisel; Robert A S Ariëns
Journal:  Circulation       Date:  2003-04-21       Impact factor: 29.690

Review 5.  Dysfibrinogenemia and thrombosis.

Authors:  Timothy Hayes
Journal:  Arch Pathol Lab Med       Date:  2002-11       Impact factor: 5.534

6.  Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage.

Authors:  H J Ridgway; S O Brennan; J M Faed; P M George
Journal:  Br J Haematol       Date:  1997-09       Impact factor: 6.998

Review 7.  Fibrinogen and fibrin structure and functions.

Authors:  M W Mosesson
Journal:  J Thromb Haemost       Date:  2005-08       Impact factor: 5.824

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

Authors:  J Koopman; F Haverkate; J Grimbergen; R Egbring; S T Lord
Journal:  Blood       Date:  1992-10-15       Impact factor: 22.113

9.  Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

Authors:  Phil Lefebvre; Pauline T Velasco; Amy Dear; Karim C Lounes; Susan T Lord; Stephen O Brennan; David Green; Laszlo Lorand
Journal:  Blood       Date:  2003-11-13       Impact factor: 22.113

10.  Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting.

Authors:  H J Ridgway; S O Brennan; S Gibbons; P M George
Journal:  Br J Haematol       Date:  1996-04       Impact factor: 6.998

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  3 in total

1.  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).

Authors:  Christina L Wassel; Leslie A Lange; Brendan J Keating; Kira C Taylor; Andrew D Johnson; Cameron Palmer; Lindsey A Ho; Nicholas L Smith; Ethan M Lange; Yun Li; Qiong Yang; Joseph A Delaney; Weihong Tang; Geoffrey Tofler; Susan Redline; Herman A Taylor; James G Wilson; Russell P Tracy; David R Jacobs; Aaron R Folsom; David Green; Christopher J O'Donnell; Alexander P Reiner
Journal:  Blood       Date:  2010-10-26       Impact factor: 22.113

2.  Increased plasma clot permeability and susceptibility to lysis are associated with heavy menstrual bleeding of unknown cause: a case-control study.

Authors:  Piotr Szczepaniak; Michał Zabczyk; Anetta Undas
Journal:  PLoS One       Date:  2015-04-24       Impact factor: 3.240

Review 3.  Fibrinogen αC domain: Its importance in physiopathology.

Authors:  Jeannette Soria; Shahsoltan Mirshahi; Sam Qiumars Mirshahi; Remi Varin; Linda L Pritchard; Claudine Soria; Massoud Mirshahi
Journal:  Res Pract Thromb Haemost       Date:  2019-02-15
  3 in total

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