Literature DB >> 9341863

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

E Mornet1, F Muller, A Lenvoisé-Furet, A L Delezoide, J Y Col, B Simon-Bouy, J L Serre.   

Abstract

We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.

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Year:  1997        PMID： 9341863     DOI： 10.1007/s004390050544

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

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Authors:  Miles C Benton; Rod A Lea; Donia Macartney-Coxson; Melanie A Carless; Harald H Göring; Claire Bellis; Michelle Hanna; David Eccles; Geoffrey K Chambers; Joanne E Curran; Jacquie L Harper; John Blangero; Lyn R Griffiths
Journal:  Am J Hum Genet       Date:  2013-12-05       Impact factor: 11.025

2.  Variants in MTHFR gene and neural tube defects susceptibility in China.

Authors:  Yongxin Wang; Yuan Liu; Wenyu Ji; Hu Qin; Hao Wu; Danshu Xu; Tukebai Turtuohut; Zengliang Wang
Journal:  Metab Brain Dis       Date:  2015-04-10       Impact factor: 3.584

3.  The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.

Authors:  D C Shields; P N Kirke; J L Mills; D Ramsbottom; A M Molloy; H Burke; D G Weir; J M Scott; A S Whitehead
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.

Authors:  Lawrence C Brody; Mary Conley; Christopher Cox; Peadar N Kirke; Mary P McKeever; James L Mills; Anne M Molloy; Valerie B O'Leary; Anne Parle-McDermott; John M Scott; Deborah A Swanson
Journal:  Am J Hum Genet       Date:  2002-10-16       Impact factor: 11.025

5.  Folate receptor 1 is necessary for neural plate cell apical constriction during Xenopus neural tube formation.

Authors:  Olga A Balashova; Olesya Visina; Laura N Borodinsky
Journal:  Development       Date:  2017-03-02       Impact factor: 6.868

6.  Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.

Authors:  Patrizia De Marco; Elisa Merello; Maria Grazia Calevo; Samantha Mascelli; Alessandro Raso; Armando Cama; Valeria Capra
Journal:  J Hum Genet       Date:  2005-11-29       Impact factor: 3.172

7.  The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy.

Authors:  L Stuppia; V Gatta; O Scarciolla; A Colosimo; P Guanciali-Franchi; G Calabrese; G Palka
Journal:  J Endocrinol Invest       Date:  2003-07       Impact factor: 4.256

8.  A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells.

Authors:  P J Bagley; J Selhub
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-27       Impact factor: 11.205

Review 9.  Folate action in nervous system development and disease.

Authors:  Olga A Balashova; Olesya Visina; Laura N Borodinsky
Journal:  Dev Neurobiol       Date:  2018-02-06       Impact factor: 3.964

10.  Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.

Authors:  Ti Zhang; Jiao Lou; Rong Zhong; Jing Wu; Li Zou; Yu Sun; Xuzai Lu; Li Liu; Xiaoping Miao; Guanglian Xiong
Journal:  PLoS One       Date:  2013-04-04       Impact factor: 3.240
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