Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.A140T
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PDX1

NM_000209.4:p.A140T

Associated Papers

Biophysical insights into glucose-dependent transcriptional regulation by PDX1.

Usher ET et al.

The Journal of Biological Chemistry, 2022

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

The coactivator Bridge-1 increases transcriptional activation by pancreas duodenum homeobox-1 (PDX-1).

Stanojevic V et al.

Molecular and Cellular Endocrinology, 2005

Pancreas duodenum homeobox-1 transcriptional activation requires interactions with p300.

Stanojevic V et al.

Endocrinology, 2004

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.

Winter WE

Reviews in Endocrine & Metabolic Disorders, 2003

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 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

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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."