Literature DB >> 8659535

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

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.   

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Year:  1996        PMID： 8659535      PMCID： PMC1915125     

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


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  5 in total

Review 1.  Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.

Authors:  A G Motulsky
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

2.  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

3.  Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease.

Authors:  I Fermo; S Vigano' D'Angelo; R Paroni; G Mazzola; G Calori; A D'Angelo
Journal:  Ann Intern Med       Date:  1995-11-15       Impact factor: 25.391

4.  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

5.  Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

Authors:  A M Engbersen; D G Franken; G H Boers; E M Stevens; F J Trijbels; H J Blom
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  5 in total
  9 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.  Hydrogen sulphide pathway contributes to the enhanced human platelet aggregation in hyperhomocysteinemia.

Authors:  Roberta d'Emmanuele di Villa Bianca; Emma Mitidieri; Matteo N D Di Minno; Nicholas S Kirkby; Timothy D Warner; Giovanni Di Minno; Giuseppe Cirino; Raffaella Sorrentino
Journal:  Proc Natl Acad Sci U S A       Date:  2013-09-09       Impact factor: 11.205

3.  Serum homocysteine, MTHFR gene polymorphism, and carotid intimal-medial thickness in NIDDM subjects.

Authors:  A Mazza; C Motti; A Nulli; A Pastore; F Andreotti; V Ammaturo; P Bianco; E Santoro; G Federici; C Cortese
Journal:  J Thromb Thrombolysis       Date:  1999-10       Impact factor: 2.300

4.  Frequency of the Methylenetetrahydrofolate REDUCTASE 677CT and 1298AC mutations in an Iranian Turkish female population.

Authors:  Morteza Bagheri; Isa Abdi Rad
Journal:  Maedica (Buchar)       Date:  2010-07

5.  Hyperhomocysteinemia and low plasma folate as risk factors for central retinal vein occlusion: a case-control study in a Chinese population.

Authors:  Wei Gao; Yu-Sheng Wang; Peng Zhang; Hai-Yan Wang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-03-15       Impact factor: 3.117

6.  Cardiovascular risk factors and outcome in patients with retinal vein occlusion.

Authors:  Mirko Di Capua; Antonio Coppola; Rosina Albisinni; Antonella Tufano; Anna Guida; Matteo Nicola Dario Di Minno; Ferdinando Cirillo; Marcello Loffredo; Anna Maria Cerbone
Journal:  J Thromb Thrombolysis       Date:  2010-07       Impact factor: 2.300

7.  Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

Authors:  L Thuillier; B Chadefaux-Vekemans; J P Bonnefont; A Kara; J Aupetit; C Rochette; G Montalescot; M C Couty; P Kamoun; A Ankri
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

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

9.  Hyperbaric oxygen therapy in branch retinal artery occlusion in a 15-year-old boy with methylenetetrahydrofolate reductase mutation.

Authors:  Ali Riza Cenk Celebi; Sibel Kadayifcilar; Bora Eldem
Journal:  Case Rep Ophthalmol Med       Date:  2015-02-05
  9 in total

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