Varaico: Literature-Extracted Genetic Variants

Gene:FTO
Variant:p.R316Q
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FTO

NM_001080432.3:p.R316Q

Associated Papers

FTO-mediated m6A demethylation regulates IGFBP3 expression and AKT activation through IMP3-dependent P-body re-localisation in lung cancer.

Wang H et al.

Clinical and Translational Medicine, 2025

m6A modification enhances the stability of CDC25A promotes tumorigenicity of esophagogastric junction adenocarcinoma via cell cycle.

Pan Y et al.

International Journal of Biological Sciences, 2024

Revealing the Catalytic Strategy of FTO.

Varghese A et al.

Chem Catalysis, 2023

FTO Gene Polymorphisms at the Crossroads of Metabolic Pathways of Obesity and Epigenetic Influences.

Popović AM et al.

Food Technology and Biotechnology, 2023

In silico profiling of nonsynonymous SNPs of fat mass and obesity-associated gene: possible impacts on the treatment of non-alcoholic fatty liver disease.

Patnaik D et al.

Lipids in Health and Disease, 2023

Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.

Mayman N et al.

Sage Open Medical Case Reports, 2023

Analysis of coding variants in the human FTO gene from the gnomAD database.

Souza Junior MLF et al.

Plos One, 2022

Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO's substrate binding implicated in obesity.

Kumar R et al.

Frontiers in Nutrition, 2022

Intracellular and tissue specific expression of FTO protein in pig: changes with age, energy intake and metabolic status.

Ferenc K et al.

Scientific Reports, 2020

The Genetic Basis of Metabolic Disease.

Barroso I et al.

Cell, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
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The Fat Mass- and Obesity-Associated (FTO) Gene to Obesity: Lessons from Mouse Models.

Chang JY et al.

Obesity (silver Spring, Md.), 2018

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.

Howard SR et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD.

Kim HS et al.

Gut, 2017

Complex Relationship between Obesity and the Fat Mass and Obesity Locus.

Yang Q et al.

International Journal of Biological Sciences, 2017

Exogenous Expressions of FTO Wild-Type and R316Q Mutant Proteins Caused an Increase in HNRPK Levels in 3T3-L1 Cells as Demonstrated by DIGE Analysis.

Guzel N et al.

Biomed Research International, 2017

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

Çağlayan AO et al.

Journal of Human Genetics, 2016

FTO variant associated with malformation syndrome.

Rohena L et al.

American Journal of Medical Genetics. Part A, 2016

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

Daoud H et al.

Journal of Medical Genetics, 2016

An association study of the m6A genes with major depressive disorder in Chinese Han population.

Du T et al.

Journal of Affective Disorders, 2015

The 'Fat Mass and Obesity Related' (FTO) gene: Mechanisms of Impact on Obesity and Energy Balance.

Speakman JR

Current Obesity Reports, 2015

Pharmacological inhibition of FTO.

McMurray F et al.

Plos One, 2015

Obesity and FTO: Changing Focus at a Complex Locus.

Tung YCL et al.

Cell Metabolism, 2014

The role of the FTO (Fat Mass and Obesity Related) locus in regulating body size and composition.

Yeo GS

Molecular and Cellular Endocrinology, 2014

Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm.

Gulati P et al.

Bioscience Reports, 2014

The genetics of cognitive epigenetics.

Kleefstra T et al.

Neuropharmacology, 2014

The bigger picture of FTO: the first GWAS-identified obesity gene.

Loos RJ et al.

Nature Reviews. Endocrinology, 2014

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.

Osborn DP et al.

Plos One, 2014

The biology of FTO: from nucleic acid demethylase to amino acid sensor.

Gulati P et al.

Diabetologia, 2013

Single nucleotide polymorphisms in the FTO gene and their association with growth and meat quality traits in rabbits.

Zhang GW et al.

Gene, 2013

The genetics of human obesity.

Xia Q et al.

Annals of the New York Academy of Sciences, 2013

Role for the obesity-related FTO gene in the cellular sensing of amino acids.

Gulati P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse.

McMurray F et al.

Plos Genetics, 2013

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

Zheng Z et al.

Plos One, 2013

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

Namjou B et al.

Frontiers in Genetics, 2013

Uncovering the biology of FTO.

Yeo GS et al.

Molecular Metabolism, 2012

Genome-wide association analysis of body mass in chronic obstructive pulmonary disease.

Wan ES et al.

American Journal of Respiratory Cell and Molecular Biology, 2011

From GWAS to biology: lessons from FTO.

Tung YC et al.

Annals of the New York Academy of Sciences, 2011

FTO Biology and Obesity: Why Do a Billion of Us Weigh 3 kg More?

Cheung MK et al.

Frontiers in Endocrinology, 2011

Overexpression of Fto leads to increased food intake and results in obesity.

Church C et al.

Nature Genetics, 2010

The genetics of obesity: FTO leads the way.

Fawcett KA et al.

Trends in Genetics : Tig, 2010

[Association of the tagging single nucleotide polymorphisms in transforming growth factor beta-1 gene with hypertension in the Han nationality population in Xinjiang].

Yang JF et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2010

From monogenic to polygenic obesity: recent advances.

Hinney A et al.

European Child & Adolescent Psychiatry, 2010

Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Meyre D et al.

Diabetes, 2010

Association of the FTO gene with obesity and the metabolic syndrome is independent of the IRS-2 gene in the female population of Southern France.

Attaoua R et al.

Diabetes & Metabolism, 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

Boissel S et al.

American Journal of Human Genetics, 2009

Mapping and significance of the mRNA methylome.

Sibbritt T et al.

Wiley Interdisciplinary Reviews. Rna, 0

Is genetic testing of value in predicting and treating obesity?

Ng MC et al.

North Carolina Medical Journal, 0

Dysregulation of ERAD and Stress Response Proteins by V493F FTO Over-expression: A Proteomic Perspective.

Kanli A

In Vivo (athens, Greece), 0

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