Associated Papers
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.
Bazzazzadehgan S et al.
Biomolecules, 2025
Early Onset Colorectal Cancer: Molecular Underpinnings Accelerating Occurrence.
Zinkeng A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2025
Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.
Kassem PH et al.
Bmc Medical Genomics, 2024
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
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.
Kickova T et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Li M et al.
Reviews in Endocrine & Metabolic Disorders, 2023
Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting.
Aarthy R et al.
Scientific Reports, 2023
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N et al.
Cell Genomics, 2023
High-fat diet plus HNF1A variant promotes polyps by activating β-catenin in early-onset colorectal cancer.
Song H et al.
Jci Insight, 2023
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB et al.
The Lancet Regional Health. Europe, 2023
Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.
Kavitha B et al.
Frontiers in Endocrinology, 2023
Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.
Trhanint S et al.
International Journal of Pediatrics & Adolescent Medicine, 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
HNF1A Mutations and Beta Cell Dysfunction in Diabetes.
Miyachi Y et al.
International Journal of Molecular Sciences, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.
Stanzick KJ et al.
Nature Communications, 2021
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
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
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
Moalla M et al.
Frontiers in Endocrinology, 2021
Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.
Venkatachalapathy P et al.
Pharmacogenomics and Personalized Medicine, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A et al.
Nature Genetics, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.
Beysel S et al.
Bmc Endocrine Disorders, 2019
Novel insights into genetics and clinics of the HNF1A-MODY.
Valkovicova T et al.
Endocrine Regulations, 2019
Maternal genetic contribution to pre-pregnancy obesity, gestational weight gain, and gestational diabetes mellitus.
Beysel S et al.
Diabetology & Metabolic Syndrome, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Locke JM et al.
Diabetes, 2018
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Pavić T et al.
Biochemia Medica, 2018
Progress in defining the genetic contribution to type 2 diabetes susceptibility.
Morris AP
Current Opinion in Genetics & Development, 2018
The molecular functions of hepatocyte nuclear factors - In and beyond the liver.
Lau HH et al.
Journal of Hepatology, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.
Billings LK et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.
Magaña-Cerino JM et al.
Molecular Genetics & Genomic Medicine, 2017
Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
Balamurugan K et al.
Clinical Genetics, 2016
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ et al.
Nature Genetics, 2015