Varaico: Literature-Extracted Genetic Variants

Gene:FOLH1
Variant:p.H475Y
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FOLH1

NM_004476.3:p.H475Y

Associated Papers

Unveiling the Therapeutic Potential of Folate-Dependent One-Carbon Metabolism in Cancer and Neurodegeneration.

Sobral AF et al.

International Journal of Molecular Sciences, 2024

The Impact of Genetics on Cognition: Insights into Cognitive Disorders and Single Nucleotide Polymorphisms.

Spoto G et al.

Journal of Personalized Medicine, 2024

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases.

Zarembska E et al.

International Journal of Molecular Sciences, 2023

Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.

Yao X et al.

Translational Psychiatry, 2021

Genetic polymorphisms and folate status.

Hiraoka M et al.

Congenital Anomalies, 2017

In silico approaches to identify the potential inhibitors of glutamate carboxypeptidase II (GCPII) for neuroprotection.

Naushad SM et al.

Journal of Theoretical Biology, 2016

Clinical utility of genetic variants of glutamate carboxypeptidase II in predicting breast cancer and prostate cancer risk.

Naushad SM et al.

Cancer Genetics, 2015

Genetic Variation in Glutamate Carboxypeptidase II and Interaction with Dietary Natural Vitamin C May Predict Risk for Adenomatous Polyp Occurrence.

Choi JH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Structural and biochemical characterization of the folyl-poly-γ-l-glutamate hydrolyzing activity of human glutamate carboxypeptidase II.

Navrátil M et al.

The Febs Journal, 2014

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

Figueiredo JC et al.

Molecular Nutrition & Food Research, 2013

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c

Association of glutamate carboxypeptidase II (GCPII) haplotypes with breast and prostate cancer risk.

Divyya S et al.

Gene, 2013

Glutamate carboxypeptidase II (GCPII) genetic variants as determinants of hyperhomocysteinemia: implications in stroke susceptibility.

Divyya S et al.

Indian Journal of Biochemistry & Biophysics, 2012

Rare allelic variants determine folate status in an unsupplemented European population.

Pavlíková M et al.

The Journal of Nutrition, 2012

Folate and vitamin B12-related genes and risk for omphalocele.

Mills JL et al.

Human Genetics, 2012

Paradoxical role of C1561T glutamate carboxypeptidase II (GCPII) genetic polymorphism in altering disease susceptibility.

Divyya S et al.

Gene, 2012

Folate and vitamin B12 in idiopathic male infertility.

Murphy LE et al.

Asian Journal of Andrology, 2011

Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.

Hazra A et al.

Cancer Causes & Control : Ccc, 2010

Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.

Collin SM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 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

Relationships between gene polymorphisms of folate-related proteins and vitamins and metabolites in pregnant women and neonates.

Lopreato FR et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.

DeVos L et al.

The American Journal of Clinical Nutrition, 2008

High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.

Giusti B et al.

Biochemical Genetics, 2008

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

Urreizti R et al.

Clinical Biochemistry, 2007

Relations of glutamate carboxypeptidase II (GCPII) polymorphisms to folate and homocysteine concentrations and to scores of cognition, anxiety, and depression in a homogeneous Norwegian population: the Hordaland Homocysteine Study.

Halsted CH et al.

The American Journal of Clinical Nutrition, 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

Human nutrition and genetic variation.

Stover PJ

Food and Nutrition Bulletin, 2007

Molecular evolution of the transferrin receptor/glutamate carboxypeptidase II family.

Lambert LA et al.

Journal of Molecular Evolution, 2007

Current perspectives on the genetic causes of neural tube defects.

De Marco P et al.

Neurogenetics, 2006

Genetic variation in genes of folate metabolism and neural-tube defect risk.

van der Linden IJ et al.

The Proceedings of the Nutrition Society, 2006

Genetic determinants of folate status in Central Bohemia.

Veselá K et al.

Physiological Research, 2005

Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study.

Chen J et al.

International Journal of Cancer, 2004

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

Scala I et al.

American Journal of Medical Genetics. Part A, 2003

Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2.

Shi M et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2003

Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.

Morin I et al.

Molecular Genetics and Metabolism, 2003

Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients.

Winkelmayer WC et al.

Kidney International, 2003

Genetic determinants of the homocysteine level.

Sunder-Plassmann G et al.

Kidney International. Supplement, 2003

Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients.

Födinger M et al.

Journal of the American Society of Nephrology : Jasn, 2003

The H475Y polymorphism in the glutamate carboxypeptidase II gene increases plasma folate without affecting the risk for neural tube defects in humans.

Afman LA et al.

The Journal of Nutrition, 2003

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Lievers KJ et al.

Annals of Clinical Biochemistry, 2003

Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C-->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk.

Lievers KJ et al.

Atherosclerosis, 2002

Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects.

Vieira AR et al.

American Journal of Medical Genetics, 2002

Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia.

Devlin AM et al.

Human Molecular Genetics, 2000

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