Literature DB >> 14573785

Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation.

Iris Schrijver1, Tiffanee J Lenzi, Carol D Jones, Marla J Lay, Maurice L Druzin, James L Zehnder.   

Abstract

Thrombotic predisposition may affect pregnancy outcome, but in non-Caucasians the contributing genetic factors are poorly characterized. Two recently identified prothrombin gene mutations (20209C>T and 20221C>T) have been observed in non-Caucasian patients with thrombosis. The mutations are located near the commonly identified variant 20210G>A and have not been reported in Caucasian patients. The authors report a novel connection with pregnancy complications. The identification of sequence variants other than 20210G>A in the 3'-untranslated region of the prothrombin gene suggests that additional nucleotide substitutions may contribute to the development of thrombotic events and adverse pregnancy outcomes, especially in less well-characterized populations.

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Year:  2003        PMID: 14573785      PMCID: PMC1907338          DOI: 10.1016/S1525-1578(10)60482-5

Source DB:  PubMed          Journal:  J Mol Diagn        ISSN: 1525-1578            Impact factor:   5.568


  14 in total

1.  Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia.

Authors:  N H Gehring; U Frede; G Neu-Yilik; P Hundsdoerfer; B Vetter; M W Hentze; A E Kulozik
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

2.  A novel point mutation in the 3' region of the prothrombin gene at position 20221 in a Lebanese/Syrian family.

Authors:  M Wylenzek; C Geisen; L Stapenhorst; K Wielckens; K R Klingler
Journal:  Thromb Haemost       Date:  2001-05       Impact factor: 5.249

3.  Thrombophilia polymorphisms and intrauterine growth restriction.

Authors:  Michael J Kupferminc; Ariel Many; Joseph B Lessing
Journal:  N Engl J Med       Date:  2002-11-07       Impact factor: 91.245

Review 4.  How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review.

Authors:  Zarko Alfirevic; Devender Roberts; Vanessa Martlew
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2002-02-10       Impact factor: 2.435

5.  Nucleotide sequence of the gene for human prothrombin.

Authors:  S J Degen; E W Davie
Journal:  Biochemistry       Date:  1987-09-22       Impact factor: 3.162

6.  Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage.

Authors:  Galit Sarig; Johnny S Younis; Ron Hoffman; Naomi Lanir; Zeev Blumenfeld; Benjamin Brenner
Journal:  Fertil Steril       Date:  2002-02       Impact factor: 7.329

7.  Mutations in coagulation factors in women with unexplained late fetal loss.

Authors:  I Martinelli; E Taioli; I Cetin; A Marinoni; S Gerosa; M V Villa; M Bozzo; P M Mannucci
Journal:  N Engl J Med       Date:  2000-10-05       Impact factor: 91.245

8.  Third-trimester unexplained intrauterine fetal death is associated with inherited thrombophilia.

Authors:  Ariel Many; Ronit Elad; Yuval Yaron; Amiram Eldor; Joseph B Lessing; Michael J Kupferminc
Journal:  Obstet Gynecol       Date:  2002-05       Impact factor: 7.661

9.  Absence of association of thrombophilia polymorphisms with intrauterine growth restriction.

Authors:  Claire Infante-Rivard; Georges-Etienne Rivard; Wagner V Yotov; Emmanuelle Génin; Marguerite Guiguet; Clarice Weinberg; Robert Gauthier; Juan Carlos Feoli-Fonseca
Journal:  N Engl J Med       Date:  2002-07-04       Impact factor: 91.245

10.  Detection of a novel point mutation of the prothrombin gene at position 20209.

Authors:  Ilka Warshawsky; Carol Hren; Linda Sercia; Bonnie Shadrach; Steven R Deitcher; Erin Newton; Kandice Kottke-Marchant
Journal:  Diagn Mol Pathol       Date:  2002-09
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  5 in total

Review 1.  A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview.

Authors:  Jian-Min Chen; Claude Férec; David N Cooper
Journal:  Hum Genet       Date:  2006-04-28       Impact factor: 4.132

Review 2.  3' end mRNA processing: molecular mechanisms and implications for health and disease.

Authors:  Sven Danckwardt; Matthias W Hentze; Andreas E Kulozik
Journal:  EMBO J       Date:  2008-02-06       Impact factor: 11.598

3.  Prothrombin C20209T mutation in deep vein thrombosis: a case report.

Authors:  Mariela Muñoz; Cristian Vilos; Mario Cantín
Journal:  Int J Clin Exp Med       Date:  2015-07-15

Review 4.  Processing and transcriptome expansion at the mRNA 3' end in health and disease: finding the right end.

Authors:  Anton Ogorodnikov; Yulia Kargapolova; Sven Danckwardt
Journal:  Pflugers Arch       Date:  2016-05-25       Impact factor: 3.657

5.  A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient.

Authors:  Silvia Izquierdo Alvarez; Eva Barrio Ollero; Francisco Miguel Llinares Sanjuan; Fabiola Lorente Martínez; María Teresa Calvo Martín
Journal:  Biochem Med (Zagreb)       Date:  2014-02-15       Impact factor: 2.313

  5 in total

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