Associated Papers
Multi-level computational analysis identifies schizophrenia missense SNPs with implications for synaptic function, neuroimmune dysfunction, and antipsychotic response.
Coppin FM et al.
Molecular and Cellular Neurosciences, 2026
Missense and Intronic Variants in HNF1A Affect Prostate Cancer Aggressiveness in Patients with Biochemical Recurrence.
Tung MC et al.
International Journal of Medical 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
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
NSABP FC-11: A phase II study of neratinib plus trastuzumab or neratinib plus cetuximab in patients with "quadruple wild-type" (KRAS/NRAS/BRAF/PIK3CA) metastatic colorectal cancer based on HER2 status: amplified, non-amplified (wild-type), or mutated.
Freeman TJ et al.
Cancer Chemotherapy and Pharmacology, 2025
The MiBlend Randomized Trial: Investigating Genetic Polymorphisms in Personalized Responses to Fruit and Vegetable Interventions for Chronic Disease Prevention.
DeBenedictis JN et al.
Antioxidants (basel, Switzerland), 2025
Molecular Characterization and Impact of the Genetic Variants GSTP1, LncRNA H19, TCF7L2 and HNF1A on the Risk of Coronary Artery Disease With and Without T2DM Comorbidity: A Genomic Biomarker Study.
Dabla PK et al.
Discovery Medicine, 2025
High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.
Thuesen ACB et al.
Canadian Journal of Diabetes, 2025
Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.
Bazzazzadehgan S et al.
Biomolecules, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
A polygenic risk score derived from common variants of monogenic diabetes genes is associated with young-onset type 2 diabetes and cardiovascular-kidney complications.
O CK et al.
Diabetologia, 2025
Low C-Reactive Protein Alleles in Hepatocyte Nuclear Factor 1A Are Associated With an Increased Risk of Cardiovascular Disease.
Yang C et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.
Hamadi A et al.
Plos One, 2025
Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.
Cherkaoui I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Abdelwahed M et al.
Gene, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 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
Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits.
Chen CY et al.
Cell Genomics, 2023
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P et al.
Diabetologia, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients.
Mir R et al.
Journal of Personalized Medicine, 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
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
Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes.
Robino A et al.
Biomedicines, 2023
Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
El Khoury LY et al.
Clinical Epigenetics, 2023
Oligo-Metastatic Cancers: Putative Biomarkers, Emerging Challenges and New Perspectives.
Ottaiano A et al.
Cancers, 2023
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 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
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
Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.
Li Q et al.
Journal of Gastrointestinal Oncology, 2022
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
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes.
Jiang Y et al.
Molecular and Cellular Biochemistry, 2022