Associated Papers
IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.
Malvestiti F et al.
International Journal of Molecular Sciences, 2026
Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.
Ruggiero R et al.
International Journal of Cancer, 2025
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.
Wang JJ et al.
Frontiers in Physiology, 2025
PNPLA3-Ile148Met and TM6SF2-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.
Yao H et al.
Frontiers in Endocrinology, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F et al.
International Journal of Molecular Sciences, 2021
Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.
Yumiceba V et al.
Frontiers in Endocrinology, 2020
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.
Costa V et al.
International Journal of Molecular Sciences, 2016
Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?
Pollastro C et al.
Ppar Research, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
The role of pharmacogenetics in drug disposition and response of oral glucose-lowering drugs.
van Leeuwen N et al.
Clinical Pharmacokinetics, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.
Esposito DL et al.
Oncology Reports, 2013
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC et al.
Molecular Diagnosis & Therapy, 2012
The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population.
Rai E et al.
Plos One, 2012
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
Unknown Author
Plos Genetics, 2011
Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.
Abulí A et al.
Bmc Cancer, 2011
The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
Julier C et al.
Genes and Immunity, 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
Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
Küry S et al.
Bmc Cancer, 2008
AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects.
Andersen G et al.
Diabetes, 2008
Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.
Zeggini E et al.
Diabetes, 2004
The role of insulin receptor substrate-1 gene (IRS1) in type 2 diabetes in Pima Indians.
Kovacs P et al.
Diabetes, 2003
A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
Watanabe I et al.
Clinical Pharmacology and Therapeutics, 2003
A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.
Esposito DL et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Heterozygous knockout of the IRS-1 gene in mice enhances obesity-linked insulin resistance: a possible model for the development of type 2 diabetes.
Shirakami A et al.
The Journal of Endocrinology, 2002
The T allele of the C(677)T 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism may protect endothelial function in young, normal subjects.
Butler R et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2002
Bioinformatic and experimental tools for identification of single-nucleotide polymorphisms in genes with a potential role for the development of the insulin resistance syndrome.
Bennet AM et al.
Journal of Internal Medicine, 2001
Impact of natural IRS-1 mutations on insulin signals: mutations of IRS-1 in the PTB domain and near SH2 protein binding sites result in impaired function at different steps of IRS-1 signaling.
Yoshimura R et al.
Diabetes, 1997
No association between the Gly971Arg variant of the insulin receptor substrate 1 gene and NIDDM in the Taiwanese population.
Chuang LM et al.
Diabetes Care, 1996
Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.
Laakso M et al.
The Journal of Clinical Investigation, 1994
Molecular scanning for mutations in the insulin receptor substrate-1 (IRS-1) gene in Mexican Americans with Type 2 diabetes mellitus.
Celi FS et al.
Diabetes/metabolism Research and Reviews, 0
ASSOCIATION OF IRS1 GLY971ARG GENE POLYMORPHISM WITH INSULIN RESISTANCE IN IRANIAN NEWLY DIAGNOSED DIABETIC ADULTS.
Shakeri H et al.
Acta Endocrinologica (bucharest, Romania : 2005), 0