Associated Papers
Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Buhur Pirimoglu M et al.
Irish Journal of Medical Science, 2025
HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.
Ng NHJ et al.
Nature Communications, 2024
38909044 (PubMed )
Supplement: 41467_2024_48647_MOESM12_ESM.xlsx › Sheet1
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Kaci A et al.
Human Molecular Genetics, 2024
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.
Daggag H et al.
Metabolism Open, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis.
Karaoglan M et al.
Journal of Diabetes, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Somatic_TSG_allVariants_
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A et al.
Nature Genetics, 2019
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami N et al.
American Journal of Human Genetics, 2016
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Oh SH et al.
Gut and Liver, 2015
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
Fan ZC et al.
Molecular Genetics & Genomic Medicine, 2015
Pharmacogenetic effects of regulatory nuclear receptors (PXR, CAR, RXRα and HNF4α) on docetaxel disposition in Chinese nasopharyngeal cancer patients.
Chew SC et al.
European Journal of Clinical Pharmacology, 2014
GCKR mutations in Japanese families with clustered type 2 diabetes.
Tanaka D et al.
Molecular Genetics and Metabolism, 2011
Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.
Savas S et al.
Physiological Genomics, 2007
Cytokine Profile in Patients With Maturity-onset Diabetes of the Young (MODY).
Diren A et al.
In Vivo (athens, Greece), 0
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