Literature DB >> 8940285

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.

M P Sperandeo, R de Franchis, G Andria, G Sebastio.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8940285      PMCID： PMC1914867     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  10 in total

1.  Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.

Authors:  R de Franchis; F P Mancini; A D'Angelo; G Sebastio; I Fermo; V de Stefano; M Margaglione; G Mazzola; G di Minno; G Andria
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Nonsense mutations and diminished mRNA levels.

Authors:  I McIntosh; A Hamosh; H C Dietz
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

3.  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

4.  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

5.  The skipping of constitutive exons in vivo induced by nonsense mutations.

Authors:  H C Dietz; D Valle; C A Francomano; R J Kendzior; R E Pyeritz; G R Cutting
Journal:  Science       Date:  1993-01-29       Impact factor: 47.728

6.  The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Authors:  G Sebastio; M P Sperandeo; M Panico; R de Franchis; J P Kraus; G Andria
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

7.  Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Authors:  L A Kluijtmans; L P van den Heuvel; G H Boers; P Frosst; E M Stevens; B A van Oost; M den Heijer; F J Trijbels; R Rozen; H J Blom
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

8.  Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

Authors:  M Marble; M T Geraghty; R de Franchis; J P Kraus; D Valle
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

Authors:  R de Franchis; V Kozich; R R McInnes; J P Kraus
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

10.  The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

Authors:  M Münke; J P Kraus; T Ohura; U Francke
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025
  10 in total
  15 in total

1.  A multilocus genotyping assay for candidate markers of cardiovascular disease risk.

Authors:  S Cheng; M A Grow; C Pallaud; W Klitz; H A Erlich; S Visvikis; J J Chen; C R Pullinger; M J Malloy; G Siest; J P Kane
Journal:  Genome Res       Date:  1999-10       Impact factor: 9.043

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

Authors:  M Orendác; B Musková; E Richterová; J Zvárová; M Stefek; E Zaykova; J P Kraus; J Stríbrný; J Hyánek; V Kozich
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Determinants of homocysteine levels in Ivorian rural population.

Authors:  Georges Tiahou; Anne-Marie Dupuy; Isabelle Jaussent; Daniel Sees; Jean-Paul Cristol; Stephanie Badiou
Journal:  Int J Vitam Nutr Res       Date:  2009-09       Impact factor: 1.784

Review 4.  Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

Authors:  Richard S Beard; Shawn E Bearden
Journal:  Am J Physiol Heart Circ Physiol       Date:  2010-10-22       Impact factor: 4.733

Review 5.  Cystathionine-β-Synthase: Molecular Regulation and Pharmacological Inhibition.

Authors:  Karim Zuhra; Fiona Augsburger; Tomas Majtan; Csaba Szabo
Journal:  Biomolecules       Date:  2020-04-30

6.  Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

Authors:  Liqun Wang; Xulin Chen; Baiqing Tang; Xiang Hua; Andres Klein-Szanto; Warren D Kruger
Journal:  Hum Mol Genet       Date:  2005-06-22       Impact factor: 6.150

Review 7.  Hyperhomocysteinemia and thrombosis.

Authors:  M Cattaneo
Journal:  Lipids       Date:  2001       Impact factor: 1.880

8.  Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.

Authors:  Jean-François Chassé; Robert Barouki
Journal:  Mol Cell Biochem       Date:  2009-07-11       Impact factor: 3.396

9.  Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.

Authors:  N Ott; H Geddert; M Sarbia
Journal:  J Cancer Res Clin Oncol       Date:  2007-08-29       Impact factor: 4.553

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.