Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.H433P
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CBS

NM_000071.3:p.H433P

Associated Papers

Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis.

Zhu Z et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2024

Multiple sclerosis and genetic polymorphisms in fibrinogen-mediated hemostatic pathways: a case-control study.

Abbadessa G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

A narrative review on the role of folate-mediated one-carbon metabolism and its associated gene polymorphisms in posing risk to preeclampsia.

Mahmood S et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2021

Genes and genetics in hyperhomocysteinemia and the "1-carbon metabolism": implications for retinal structure and eye functions.

George AK et al.

Canadian Journal of Physiology and Pharmacology, 2020

Genetic Variants of Homocysteine Metabolism, Homocysteine, and Frailty - Rugao Longevity and Ageing Study.

Ma T et al.

The Journal of Nutrition, Health & Aging, 2020

Genetic susceptibility to cerebrovascular disease: A systematic review.

Griessenauer CJ et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2018

CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Ibrahim S et al.

Molecular Biology Reports, 2018

Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence.

Lucock M et al.

Bba Clinical, 2015

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion.

Boas WV et al.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2015

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Karaca M et al.

Gene, 2014

Are genes connected with homocysteine metabolism associated with bipolar disorder?

Permoda-Osip A et al.

Neuropsychobiology, 2014

Evaluation of plasma homocysteine level according to the C677T and A1298C polymorphism of the enzyme MTHRF in type 2 diabetic adults.

Mello AL et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias.

Clarke R et al.

Plos Medicine, 2012

22363213 (PubMed )
Supplement: pmed.1001177.s006.pdf

Polymorphisms in MTHFR, MS and CBS genes and homocysteine levels in a Pakistani population.

Yakub M et al.

Plos One, 2012

MTHFR, MTR, and MTHFD1 gene polymorphisms compared to homocysteine and asymmetric dimethylarginine concentrations and their metabolites in epileptic patients treated with antiepileptic drugs.

Sniezawska A et al.

Seizure, 2011

Polymorphisms in genes involved in folate metabolism and orofacial clefts.

Bhaskar LV et al.

Archives of Oral Biology, 2011

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

Chiquet BT et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011

Folate pathway and nonsyndromic cleft lip and palate.

Blanton SH et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011

The allele frequencies of three polymorphisms in genes involved in homocysteine metabolism in a group of unrelated healthy Singaporeans.

Chen C et al.

Disease Markers, 2010

Homocysteine level and metabolism in ischemic stroke in the population of Northern Poland.

Sawuła W et al.

Clinical Biochemistry, 2009

Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.

Aléssio AC et al.

American Journal of Medical Genetics. Part A, 2008

Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.

Dutta S et al.

Nutritional Neuroscience, 2008

The effect of polymorphisms of MTHFR C677T, A1298C, MS A2756G and CBS 844ins68bp on plasma total homocysteine level and the risk of ischemic stroke in Thai children.

Sirachainan N et al.

Thrombosis Research, 2008

A meta-analysis of genotypes and haplotypes of methylenetetrahydrofolate reductase gene polymorphisms in acute lymphoblastic leukemia.

Zintzaras E et al.

European Journal of Epidemiology, 2006

Relationship of the 1793G-A and 677C-T polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene to coronary artery disease.

Kebert CB et al.

Disease Markers, 2006

Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.

Rubini M et al.

American Journal of Medical Genetics. Part A, 2005

Homocysteine levels--before and after methionine loading--in 51 Dutch families.

den Heijer M et al.

European Journal of Human Genetics : Ejhg, 2005

Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms.

Capaccio P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).

Linnebank M et al.

Journal of Inherited Metabolic Disease, 2003

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

Tonetti C et al.

Journal of Inherited Metabolic Disease, 2001

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.

Shan X et al.

The Journal of Biological Chemistry, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."