Varaico: Literature-Extracted Genetic Variants

Gene:ADIPOQ
Variant:p.R112C
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ADIPOQ

NM_004797.4:p.R112C

Associated Papers

Adiponectin Gene Polymorphisms: A Case-Control Study on Their Role in Late-Onset Alzheimer's Disease Risk.

Javor J et al.

Life (basel, Switzerland), 2024

A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.

Simeone CA et al.

Npj Genomic Medicine, 2022

Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey.

Akinci A et al.

Molecular Biology Reports, 2022

Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.

Hołubowicz R et al.

International Journal of Molecular Sciences, 2021

Adiponectin forms a complex with atherogenic LDL and inhibits its downstream effects.

Kakino A et al.

Journal of Lipid Research, 2021

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

The Adiponectin variants contribute to the genetic background of type 2 diabetes in Turkish population.

Arikoglu H et al.

Gene, 2014

Genetics of adiponectin.

Breitfeld J et al.

Biochimie, 2012

Population-specific coding variant underlies genome-wide association with adiponectin level.

Croteau-Chonka DC et al.

Human Molecular Genetics, 2012

The absence of polymorphisms in ADRB3, UCP1, PPARγ, and ADIPOQ genes protects morbid obese patients toward insulin resistance.

Bracale R et al.

Journal of Endocrinological Investigation, 2012

Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population.

Tanimura D et al.

European Journal of Human Genetics : Ejhg, 2011

Novel adiponectin variants identified in type 2 diabetic patients reveal multimerization and secretion defects.

Jungtrakoon P et al.

Plos One, 2011

Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.

Wu Y et al.

Human Molecular Genetics, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Molecular analysis of the adiponectin gene in severely obese patients from southern Italy.

Daniele A et al.

Annals of Nutrition & Metabolism, 2008

Adiponectin gene variation -4522C/T is associated with type 2 diabetic obesity and insulin resistance in Chinese.

Liu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2007

Adiponectin, type 2 diabetes and the metabolic syndrome: lessons from human genetic studies.

Vasseur F et al.

Expert Reviews in Molecular Medicine, 2006

Genetic architecture of the APM1 gene and its influence on adiponectin plasma levels and parameters of the metabolic syndrome in 1,727 healthy Caucasians.

Heid IM et al.

Diabetes, 2006

Adiponectin polymorphisms, adiposity and insulin metabolism: HERITAGE family study and Oulu diabetic study.

Ukkola O et al.

Annals of Medicine, 2005

Adiponectin I164T mutation is associated with the metabolic syndrome and coronary artery disease.

Ohashi K et al.

Journal of the American College of Cardiology, 2004

Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin.

Waki H et al.

The Journal of Biological Chemistry, 2003

Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.

Vasseur F et al.

Human Molecular Genetics, 2002

Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulin resistance syndrome.

Kondo H et al.

Diabetes, 2002

Association of the T-G polymorphism in adiponectin (exon 2) with obesity and insulin sensitivity: interaction with family history of type 2 diabetes.

Stumvoll M et al.

Diabetes, 2002

Genomic structure and mutations in adipose-specific gene, adiponectin.

Takahashi M et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2000

In silico Evaluation of Nonsynonymous Single Nucleotide Polymorphisms in the ADIPOQ Gene Associated with Diabetes, Obesity, and Inflammation.

Narayana Swamy A et al.

Avicenna Journal of Medical Biotechnology, 0

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