Associated Papers
Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.
Quintana K et al.
American Journal of Medical Genetics. Part A, 2026
Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.
Kouidrat Y et al.
Diabetes & Metabolism, 2024
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
Significance of pancreatic duodenal homeobox-1 (PDX-1) genetic polymorphism in insulin secretion in Japanese patients with type 2 diabetes.
Okura T et al.
Bmj Open Diabetes Research & Care, 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
High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.
Dziewulska A et al.
Genes, 2018
Genetics of Type 2 Diabetes: the Power of Isolated Populations.
Andersen MK et al.
Current Diabetes Reports, 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
Recent progress in genetic and epigenetic research on type 2 diabetes.
Kwak SH et al.
Experimental & Molecular Medicine, 2016
Recent advances in understanding the genetic architecture of type 2 diabetes.
Mohlke KL et al.
Human Molecular Genetics, 2015
Insights from exome sequencing for endocrine disorders.
de Bruin C et al.
Nature Reviews. Endocrinology, 2015
Genetic architecture of type 2 diabetes.
Hara K et al.
Biochemical and Biophysical Research Communications, 2014
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Steinthorsdottir V et al.
Nature Genetics, 2014
[Genetic susceptibility of type 2 diabetes].
Hara K et al.
Seikagaku. the Journal of Japanese Biochemical Society, 2003
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