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
Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.
Lian H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.
Kheriji N et al.
Frontiers in Genetics, 2023
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
PDX-1: A Promising Therapeutic Target to Reverse Diabetes.
Zhang Y et al.
Biomolecules, 2022
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 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
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
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
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
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.
Sahebi L et al.
Journal of Medical Case Reports, 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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Chambers C et al.
Pediatric Diabetes, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Association of rs12255372 (TCF7L2) and D76N (PDX-1) Polymorphisms with Type 2 Diabetes in a Population Living in Northeast Iran.
Rafati R et al.
Archives of Iranian Medicine, 2015
Overweight condition and waist circumference and a candidate gene within the 12q24 locus.
Gragnoli C
Cardiovascular Diabetology, 2013
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
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.
Odem J et al.
Pediatric Diabetes, 2009
Linkage studies for T2D in Chop and C/EBPbeta chromosomal regions in Italians.
Gragnoli C et al.
Journal of Cellular Physiology, 2007
Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population.
Gragnoli C et al.
Minerva Medica, 2007
Insights on pathogenesis of type 2 diabetes from MODY genetics.
Weedon MN et al.
Current Diabetes Reports, 2007
Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes.
Elbein SC et al.
Diabetes, 2006
A newly identified mutation in an IPF1 binding site of the insulin gene promoter may predispose to type 2 diabetes mellitus.
Malecki MT et al.
Diabetologia, 2006
Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans.
Karim MA et al.
Bmc Medical Genetics, 2005
The coactivator Bridge-1 increases transcriptional activation by pancreas duodenum homeobox-1 (PDX-1).
Stanojevic V et al.
Molecular and Cellular Endocrinology, 2005
Missense mutations in the human insulin promoter factor-1 gene are not a common cause of type 2 diabetes mellitus in Taiwan.
Shiau MY et al.
Journal of Endocrinological Investigation, 2004
Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes?
Elbein SC et al.
Diabetes Care, 2004
Pancreas duodenum homeobox-1 transcriptional activation requires interactions with p300.
Stanojevic V et al.
Endocrinology, 2004
Genome-wide scans reveal quantitative trait Loci on 8p and 13q related to insulin action and glucose metabolism: the San Antonio Family Heart Study.
Cai G et al.
Diabetes, 2004
Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes.
Owen KR et al.
Diabetologia, 2004
Candidate genes and late-onset type 2 diabetes mellitus. Susceptibility genes or common polymorphisms?
Hansen L
Danish Medical Bulletin, 2003
Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.
Winter WE
Reviews in Endocrine & Metabolic Disorders, 2003
Functional expression and analysis of the pancreatic transcription factor PDX-1 in yeast.
Ozcan S et al.
Biochemical and Biophysical Research Communications, 2002
Molecular etiologies of MODY and other early-onset forms of diabetes.
Shih DQ et al.
Current Diabetes Reports, 2002
Reduction in pancreatic transcription factor PDX-1 impairs glucose-stimulated insulin secretion.
Brissova M et al.
The Journal of Biological Chemistry, 2002
IPF-1 gene variation and the development of type 2 diabetes.
Silver K et al.
Molecular Genetics and Metabolism, 2002
Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood.
Hui H et al.
European Journal of Endocrinology, 2002
Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations.
Weng J et al.
Diabetologia, 2001
Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene).
Clocquet AR et al.
Diabetes, 2000
Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.
Reis AF et al.
European Journal of Endocrinology, 2000
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
Macfarlane WM et al.
The Journal of Clinical Investigation, 2000
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
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
Macfarlane WM et al.
The Journal of Clinical Investigation, 1999
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.
Hani EH et al.
The Journal of Clinical Investigation, 1999
Pancreatic Duodenal Homeobox (PDX-1) in health and disease.
Melloul D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0