Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.T612M
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PPARGC1A

NM_013261.5:p.T612M

Associated Papers

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Association of rare PPARGC1A variants with Parkinson's disease risk.

Li LZ et al.

Journal of Human Genetics, 2022

Genetic Variants in the Activation of the Brown-Like Adipocyte Pathway and the Risk for Severe Obesity.

da Fonseca ACP et al.

Obesity Facts, 2020

Association of PGC-1α gene with type 2 diabetes in three unrelated endogamous groups of North-West India (Punjab): a case-control and meta-analysis study.

Sharma R et al.

Molecular Genetics and Genomics : Mgg, 2018

Linking Metabolic Disease With the PGC-1α Gly482Ser Polymorphism.

Vandenbeek R et al.

Endocrinology, 2018

PPARGC1A rs3736265 G>A polymorphism is associated with decreased risk of type 2 diabetes mellitus and fasting plasma glucose level.

Zhu L et al.

Oncotarget, 2017

Association of polymorphisms rs290487, rs864745, rs4430796 and rs23136 with type 2 diabetes in the Uyghur population in China.

Deng X et al.

International Journal of Clinical and Experimental Pathology, 2017

Association of adiponectin gene polymorphism with nonalcoholic fatty liver disease in Taiwanese patients with type 2 diabetes.

Hsieh CJ et al.

Plos One, 2015

A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.

Weydt P et al.

Bmc Neurology, 2014

Gly482Ser mutation impairs the effects of peroxisome proliferator-activated receptor γ coactivator-1α on decreasing fat deposition and stimulating phosphoenolpyruvate carboxykinase expression in hepatocytes.

Chen Y et al.

Nutrition Research (new York, N.y.), 2013

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.

Johnson JK et al.

Bmc Cancer, 2012

Association of the PGC-1α rs8192678 variant with microalbuminuria in subjects with type 2 diabetes mellitus.

Prior SL et al.

Disease Markers, 2012

Association of peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PPARGC1A) gene polymorphisms and type 2 diabetes mellitus: a meta-analysis.

Yang Y et al.

Diabetes/metabolism Research and Reviews, 2011

Glucose levels and genetic variants across transcriptional pathways: interaction effects with BMI.

Povel CM et al.

International Journal of Obesity (2005), 2010

Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population.

Zhu S et al.

Diabetes Research and Clinical Practice, 2009

Pro12Ala polymorphism of the peroxisome proliferatoractivated receptor-gamma gene is associated with metabolic syndrome and surrogate measures of insulin resistance in healthy men: interaction with smoking status.

Tellechea ML et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

The role of the PGC1α Gly482Ser polymorphism in weight gain due to intensive diabetes therapy.

Deeb SS et al.

Ppar Research, 2009

Association between peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene polymorphisms and type 2 diabetes in southern Chinese population: role of altered interaction with myocyte enhancer factor 2C.

Zhang SL et al.

Chinese Medical Journal, 2007

The peroxisome proliferator-activated receptor gamma coactivator-1 alpha gene (PGC-1alpha) is not associated with type 2 diabetes mellitus or body mass index among Hispanic and non Hispanic Whites from Colorado.

Nelson TL et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2007

Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function.

Nitz I et al.

Biochemical and Biophysical Research Communications, 2007

Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families.

Zhang ZL et al.

Acta Pharmacologica Sinica, 2007

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.

Wirtenberger M et al.

Carcinogenesis, 2006

Haplotypes of PPARGC1A are associated with glucose tolerance, body mass index and insulin sensitivity in offspring of patients with type 2 diabetes.

Pihlajamäki J et al.

Diabetologia, 2005

Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population.

Kim JH et al.

Diabetologia, 2005

[Association of Pro12Ala variant in peroxisome proliferator-activated receptor-gamma2 gene with type 2 diabetes mellitus].

Fu M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.

Wang G et al.

Chinese Medical Journal, 2001

Effects of the peroxisome proliferator-activated receptor-gamma co-activator-1 Gly482Ser variant on features of the metabolic syndrome.

Vohl MC et al.

Molecular Genetics and Metabolism, 0

Susceptibility to breast cancer: hereditary syndromes and low penetrance genes.

Nusbaum R et al.

Breast Disease, 0

THE PPARGC1A - GLY482SER POLYMORPHISM (RS8192678) AND THE METABOLIC SYNDROME IN A CENTRAL ROMANIAN POPULATION.

Csép K et al.

Acta Endocrinologica (bucharest, Romania : 2005), 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."