Associated Papers
PDX1 phosphorylation at S61 by mTORC1 links nutrient signaling to β cell function and metabolic disease.
Fan J et al.
Cell Reports, 2026
MODY PDX1P33T: a mouse model reveals phenotypic divergence from human disease.
Harten A et al.
Frontiers in Endocrinology, 2025
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.
Ribeiro AF et al.
Journal of Diabetes Research, 2024
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Li M et al.
Reviews in Endocrine & Metabolic Disorders, 2023
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Bonetti G et al.
Journal of Clinical Medicine, 2022
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational 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
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.
Sampathkumar G et al.
Journal of Endocrinological Investigation, 2022
Screening for monogenic subtypes of gestational diabetes in a high prevalence island population - A whole exome sequencing study.
Pace NP et al.
Diabetes/metabolism Research and Reviews, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.
Yoshiji S et al.
Journal of the Endocrine Society, 2022
Maturity-onset diabetes of the young (MODY) due to PDX1 mutation in a sib-pair diabetes family from Qatar.
Haris B et al.
Clinical Case Reports, 2021
The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Yalçıntepe S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.
Lee DH et al.
Bmj Open Diabetes Research & Care, 2021
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T et al.
International Journal of Molecular Sciences, 2021
A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes.
Hildebrand JM et al.
Cell Death & Disease, 2021
Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements.
Braverman-Gross C et al.
Frontiers in Endocrinology, 2021
Genome Editing Human Pluripotent Stem Cells to Model β-Cell Disease and Unmask Novel Genetic Modifiers.
George MN et al.
Frontiers in Endocrinology, 2021
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.
Krentz NAJ et al.
Nature Reviews. Endocrinology, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Point mutations in the PDX1 transactivation domain impair human β-cell development and function.
Wang X et al.
Molecular Metabolism, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.
Uittenbogaard M et al.
Molecular Genetics and Metabolism, 2019
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs.
Braverman-Gross C et al.
Stem Cell Research, 2018
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Mohan V et al.
Bmc Medical Genetics, 2018
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
Doddabelavangala Mruthyunjaya M et al.
Plos One, 2017
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene.
Wang X et al.
Stem Cell Research, 2016
Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4.
Mangrum C et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2015
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.
Edghill EL et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2011
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.
Haaland WC et al.
Diabetes Care, 2009
IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes.
Gragnoli C et al.
Metabolism: Clinical and Experimental, 2005
Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.
Winter WE
Reviews in Endocrine & Metabolic Disorders, 2003
Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.
Hansen L et al.
The Journal of Clinical Endocrinology and Metabolism, 2000