Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.R197H
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PDX1

NM_000209.4:p.R197H

Associated Papers

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

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

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 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

Divergent genes in gerbils: prevalence, relation to GC-biased substitution, and phenotypic relevance.

Dai Y et al.

Bmc Evolutionary Biology, 2020

Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.

Sahebi L et al.

Journal of Medical Case Reports, 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

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_004.pdf

Genomic sequencing of key genes in mouse pancreatic cancer cells.

Wang Y et al.

Current Molecular Medicine, 2012

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

Insights on pathogenesis of type 2 diabetes from MODY genetics.

Weedon MN et al.

Current Diabetes Reports, 2007

Structural basis for induced fit mechanisms in DNA recognition by the Pdx1 homeodomain.

Longo A et al.

Biochemistry, 2007

Homeodomain revisited: a lesson from disease-causing mutations.

Chi YI

Human Genetics, 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

PDX-1 and the pancreas.

Ashizawa S et al.

Pancreas, 2004

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

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

Pancreatic duodenal homeobox-1, PDX-1, a major regulator of beta cell identity and function.

McKinnon CM et al.

Diabetologia, 2001

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

Pancreatic Duodenal Homeobox (PDX-1) in health and disease.

Melloul D et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."