Literature DB >> 1651567

A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia.

P A van der Velden1, T Krommenhoek-Van Es, C F Allaart, R M Bertina, P H Reitsma.   

Abstract

We report a C/T dimorphism in the thrombomodulin (TM) gene that predicts an Ala455----Val replacement in the sixth EGF-like domain of TM. This dimorphism has allelic frequencies of 82 (Ala) and 18% (Val) in a normal population. In a group of protein C deficient patients and in a group of subjects with unexplained thrombophilia the allelic frequencies were found to be the same as in the normal population. This indicates that with respect to thrombophilia the dimorphism is essentially neutral.

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Year:  1991        PMID: 1651567

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


  7 in total

1.  A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state.

Authors:  H Weiler-Guettler; P D Christie; D L Beeler; A M Healy; W W Hancock; H Rayburn; J M Edelberg; R D Rosenberg
Journal:  J Clin Invest       Date:  1998-05-01       Impact factor: 14.808

Review 2.  Thrombophilia, polymorphisms, and vascular disease.

Authors:  T C Sykes; C Fegan; D Mosquera
Journal:  Mol Pathol       Date:  2000-12

3.  Thrombomodulin gene c.1418C>T polymorphism and risk of recurrent venous thromboembolism.

Authors:  Abrar Ahmad; Kristina Sundquist; Bengt Zöller; Peter J Svensson; Jan Sundquist; Ashfaque A Memon
Journal:  J Thromb Thrombolysis       Date:  2016-07       Impact factor: 2.300

Review 4.  Antiphospholipid syndrome: genetic review.

Authors:  Bahram Namjou
Journal:  Curr Rheumatol Rep       Date:  2003-10       Impact factor: 4.592

5.  Association of thrombomodulin Ala455Val dimorphism and inflammatory cytokines with carotid atherosclerosis in the Chinese Han population.

Authors:  Gaochao Qian; Zhixiang Ding; Binxia Zhang; Qihua Li; Wentao Jin; Qi Zhang
Journal:  J Inflamm Res       Date:  2012-11-15

6.  Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.

Authors:  John W Cole; Stacy C Roberts; Margaret Gallagher; Wayne H Giles; Braxton D Mitchell; Karen K Steinberg; Marcella A Wozniak; Richard F Macko; Laurie J Reinhart; Steven J Kittner
Journal:  BMC Neurol       Date:  2004-12-01       Impact factor: 2.474

7.  Association of Thrombomodulin Gene Polymorphism (C1418T) With Coronary Artery Disease in Pakistani Population.

Authors:  Muhammad Akbar Mughal; Muhammad Saleh Soomro; Syed Muhammad Ashraf Jahangeer AlSaani; Saba Shahid; Shariq Ahmed
Journal:  Pak J Med Sci       Date:  2018 May-Jun       Impact factor: 1.088

  7 in total

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