Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.H595Y
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MTRR

NM_002454.3:p.H595Y

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Methylation map genes can be critical in determining the methylome of intracranial aneurysm patients.

Shafeeque CM et al.

Epigenomics, 2020

Genetic polymorphisms and pancreatic cancer risk: A PRISMA-compliant systematic review and meta-analysis.

Dai P et al.

Medicine, 2019

31393355 (PubMed )
Supplement: medi-98-e16541-s001.docx

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

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

Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

Fang Y et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway.

Cao L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

The role of the folate pathway in pancreatic cancer risk.

Chittiboyina S et al.

Plos One, 2018

Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population.

Aksoy-Sagirli P et al.

Genetic Testing and Molecular Biomarkers, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06O-01A.domain

MTHFR C677T variant reduces risk of sporadic Parkinson's disease in ethnic Chinese.

Liao Q et al.

Acta Neurologica Scandinavica, 2014

Associations of MTHFR and MTRR polymorphisms with serum lipid levels in Chinese hypertensive patients.

Jiang S et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

Contribution of environment and genetics to pancreatic cancer susceptibility.

Hocevar BA et al.

Plos One, 2014

Folate-genetics and colorectal neoplasia: what we know and need to know next.

Figueiredo JC et al.

Molecular Nutrition & Food Research, 2013

Association Study between Folate Pathway Gene Single Nucleotide Polymorphisms and Gastric Cancer in Koreans.

Yoo JY et al.

Genomics & Informatics, 2012

MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic.

Pardini B et al.

Mutation Research, 2011

Association of MTHFR, MTR, and MTRR polymorphisms with Parkinson's disease among ethnic Chinese in Taiwan.

Fong CS et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.

Curtin K et al.

International Journal of Molecular Epidemiology and Genetics, 2011

Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women.

Sangrajrang S et al.

Breast Cancer Research and Treatment, 2010

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.

Carr DF et al.

The Pharmacogenomics Journal, 2009

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

Schläwicke Engström K et al.

Mutation Research, 2009

His595Tyr polymorphism in the methionine synthase reductase (MTRR) gene is associated with pancreatic cancer risk.

Ohnami S et al.

Gastroenterology, 2008

Prognostic significance of folate metabolism polymorphisms for lung cancer.

Matakidou A et al.

British Journal of Cancer, 2007

Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study.

Hazra A et al.

Carcinogenesis, 2007

Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study.

Gast A et al.

Leukemia, 2007

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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."