Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.C18R
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PDX1

NM_000209.4:p.C18R

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

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.

Memon B et al.

Stem Cells Translational Medicine, 2022

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.

Jurgens SJ et al.

Nature Genetics, 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

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2

Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.

Krentz NAJ et al.

Nature Reviews. Endocrinology, 2020

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

Sahebi L et al.

Journal of Medical Case Reports, 2019

Point mutations in the PDX1 transactivation domain impair human β-cell development and function.

Wang X et al.

Molecular Metabolism, 2019

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene.

Wang X et al.

Stem Cell Research, 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

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

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."