Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.R259P
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TCN2

NM_000355.4:p.R259P

Associated Papers

Polymorphisms in Maternal Selected Folate Metabolism-Related Genes in Neural Tube Defect-Affected Pregnancy.

Dewelle WK et al.

Advanced Biomedical Research, 2023

An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population.

Ziółkowska K et al.

Journal of Clinical Medicine, 2022

Hyperhomocysteinemia is an emerging comorbidity in ischemic stroke.

Poddar R

Experimental Neurology, 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 polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C et al.

Scientific Reports, 2019

30911047 (PubMed )
Supplement: 41598_2019_41641_MOESM1_ESM.pdf

Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Niedzwiecki MM et al.

Environment International, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies.

Oussalah A et al.

The American Journal of Clinical Nutrition, 2017

A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin.

Li P et al.

Oncotarget, 2017

Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.

Goffinet L et al.

Journal of Medical Genetics, 2016

Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2016

Role of inherited variants in nonsyndromic heart defects confirmed: Broad study identifies variants that cause syndromic disease.

Unknown Author

American Journal of Medical Genetics. Part A, 2016

Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.

Sobczyńska-Malefora A et al.

European Journal of Clinical Investigation, 2016

Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.

Joslin AC et al.

Genes & Nutrition, 2014

Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk.

Liu AY et al.

Molecular Nutrition & Food Research, 2013

Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.

Pawlik P et al.

Molecular Biology Reports, 2012

Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.

Hozyasz KK et al.

Molecular Biology Reports, 2012

Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.

Hsu FC et al.

Neurology, 2011

Folate-metabolizing gene variants and pregnancy outcome of IVF.

Laanpere M et al.

Reproductive Biomedicine Online, 2011

Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.

Mostowska A et al.

Journal of Medical Genetics, 2010

Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions.

Schläwicke Engström K et al.

Mutation Research, 2009

[Recent perspectives on the development of the central nervous system and the genetic background of neural tube defects].

Joó JG

Orvosi Hetilap, 2009

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.

Molloy AM et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2009

Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects.

Brouns R et al.

Prenatal Diagnosis, 2008

Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism.

James SJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

High-level multiplex genotyping of polymorphisms involved in folate or homocysteine metabolism by matrix-assisted laser desorption/ionization mass spectrometry.

Meyer K et al.

Clinical Chemistry, 2004

Genetic determinants of the homocysteine level.

Sunder-Plassmann G et al.

Kidney International. Supplement, 2003

Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate.

Waltrick-Zambuzzi M et al.

Brazilian Dental Journal, 0

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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."