Literature DB >> 11752418

Genetic diversity and disease: opportunities and challenge.

J M Scott1.   

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Year:  2001        PMID： 11752418      PMCID： PMC64928          DOI： 10.1073/pnas.011601398

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  11 in total

1.  Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations.

Authors:  A M Molloy; S Daly; J L Mills; P N Kirke; A S Whitehead; D Ramsbottom; M R Conley; D G Weir; J M Scott
Journal:  Lancet       Date:  1997-05-31       Impact factor: 79.321

2.  The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.

Authors:  B D Guenther; C A Sheppard; P Tran; R Rozen; R G Matthews; M L Ludwig
Journal:  Nat Struct Biol       Date:  1999-04

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.  Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.

Authors:  K Yamada; Z Chen; R Rozen; R G Matthews
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-11       Impact factor: 11.205

5.  A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

Authors:  N M van der Put; F Gabreëls; E M Stevens; J A Smeitink; F J Trijbels; T K Eskes; L P van den Heuvel; H J Blom
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

Review 6.  The controversy over homocysteine and cardiovascular risk.

Authors:  P M Ueland; H Refsum; S A Beresford; S E Vollset
Journal:  Am J Clin Nutr       Date:  2000-08       Impact factor: 7.045

7.  A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

Authors:  I Weisberg; P Tran; B Christensen; S Sibani; R Rozen
Journal:  Mol Genet Metab       Date:  1998-07       Impact factor: 4.797

8.  A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.

Authors:  P Frosst; H J Blom; R Milos; P Goyette; C A Sheppard; R G Matthews; G J Boers; M den Heijer; L A Kluijtmans; L P van den Heuvel
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

9.  Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

Authors:  N M van der Put; R P Steegers-Theunissen; P Frosst; F J Trijbels; T K Eskes; L P van den Heuvel; E C Mariman; M den Heyer; R Rozen; H J Blom
Journal:  Lancet       Date:  1995-10-21       Impact factor: 79.321

10.  Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

Authors:  P F Jacques; A G Bostom; R R Williams; R C Ellison; J H Eckfeldt; I H Rosenberg; J Selhub; R Rozen
Journal:  Circulation       Date:  1996-01-01       Impact factor: 29.690
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