Associated Papers
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.
Watanabe D et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.
Xu L et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Stalbow LA et al.
Diabetologia, 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
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 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
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.
Goldstein JB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
MODY probability calculator for GCK and HNF1A screening in a multiethnic background population.
Tarantino RM et al.
Archives of Endocrinology and Metabolism, 2020
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Glotov OS et al.
Molecular Medicine Reports, 2019
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
Urrutia I et al.
Plos One, 2019
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
Majidi S et al.
Diabetes Technology & Therapeutics, 2018
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Martin-Morales L et al.
Plos One, 2018
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Chambers C et al.
Pediatric Diabetes, 2016
Maturity onset diabetes of the young: Seek and you will find.
Heuvel-Borsboom H et al.
The Netherlands Journal of Medicine, 2016
Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family.
Yang J et al.
Cell & Bioscience, 2016
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
Rozenkova K et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A et al.
Diabetes Care, 2014
Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes.
Shankar RK et al.
Pediatric Diabetes, 2013
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Thanabalasingham G et al.
Diabetes, 2013
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Thanabalasingham G et al.
Diabetes Care, 2012
Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.
Maltoni G et al.
Pediatric Diabetes, 2012
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3.
Bozzoli V et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2012
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
Awa WL et al.
European Journal of Endocrinology, 2011
Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young.
Beijers HJ et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2009
HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.
Maraschin Jde F et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I et al.
Clinical Endocrinology, 2007
Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes.
Harries LW
Expert Review of Endocrinology & Metabolism, 2006
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
Rebouissou S et al.
Human Molecular Genetics, 2005
New insulin sensitivity adjusted beta cell indices: validation according to a genetic study.
Chiu KC et al.
Pancreas, 2003
Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
Ryffel GU
Journal of Molecular Endocrinology, 2001
High-resolution structure of the HNF-1alpha dimerization domain.
Rose RB et al.
Biochemistry, 2000
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.
Rose RB et al.
Nature Structural Biology, 2000
Molecular and biochemical analysis of the MODY syndromes.
Winter WE
Pediatric Diabetes, 2000
Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1alpha (maturity-onset diabetes of the young-3) mutations.
Vaxillaire M et al.
European Journal of Endocrinology, 1999
Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
Yoshiuchi I et al.
Diabetologia, 1999
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chèvre JC et al.
Diabetologia, 1998