Associated Papers
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 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
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.
Ludovico O et al.
Plos One, 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
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
Functional expression and analysis of the pancreatic transcription factor PDX-1 in yeast.
Ozcan S et al.
Biochemical and Biophysical Research Communications, 2002
Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
Lindgren CM et al.
Diabetes, 2002
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.
Weng J et al.
Diabetes Care, 2002
Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations.
Weng J et al.
Diabetologia, 2001
Pancreatic Duodenal Homeobox (PDX-1) in health and disease.
Melloul D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0