Literature DB >> 10399104

Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?

M Orendác1, B Musková, E Richterová, J Zvárová, M Stefek, E Zaykova, J P Kraus, J Stríbrný, J Hyánek, V Kozich.   

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Year:  1999        PMID： 10399104     DOI： 10.1023/a:1005554702861

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

Authors:  M P Sperandeo; R de Franchis; G Andria; G Sebastio
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

2.  Hyperhomocysteinemia: an independent risk factor for vascular disease.

Authors:  R Clarke; L Daly; K Robinson; E Naughten; S Cahalane; B Fowler; I Graham
Journal:  N Engl J Med       Date:  1991-04-25       Impact factor: 91.245

3.  High prevalence of a mutation in the cystathionine beta-synthase gene.

Authors:  M Y Tsai; M Bignell; K Schwichtenberg; N Q Hanson
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  A common 844INS68 insertion variant in the cystathionine beta-synthase gene.

Authors:  L A Kluijtmans; G H Boers; F J Trijbels; H M van Lith-Zanders; L P van den Heuvel; H J Blom
Journal:  Biochem Mol Med       Date:  1997-10

5.  Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

Authors:  V Kozich; E Kraus; R de Franchis; B Fowler; G H Boers; I Graham; J P Kraus
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150
  5 in total
  3 in total

Review 1.  Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Authors:  Z Tang; R P Tracy
Journal:  J Thromb Thrombolysis       Date:  2001-02       Impact factor: 2.300

2.  Association between Hcy levels and the CBS844ins68 and MTHFR C677T polymorphisms with essential hypertension.

Authors:  Weijuan Cai; Liang Yin; Fang Yang; Lei Zhang; Jiang Cheng
Journal:  Biomed Rep       Date:  2014-09-05

3.  Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Authors:  Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans G Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen R Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878
  3 in total

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