Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.Q59L
Back to variants list

PDX1

NM_000209.4:p.Q59L

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

Unraveling the genetic basis of MODY: insights from next-generation sequencing.

Eser M et al.

Journal of Applied Genetics, 2025

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

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

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

Genomic sequencing of key genes in mouse pancreatic cancer cells.

Wang Y et al.

Current Molecular Medicine, 2012

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

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

Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood.

Hui H et al.

European Journal of Endocrinology, 2002

Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.

Reis AF et al.

European Journal of Endocrinology, 2000

The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.

Waeber G et al.

Nature Genetics, 2000

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."