Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.R129W
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PAX4

NM_001366110.1:p.R129W

Associated Papers

In Silico Functional and Structural Analysis of Non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in Human Paired Box 4 Gene.

Kamal MM et al.

Biochemical Genetics, 2024

PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.

Lau HH et al.

Nature Communications, 2023

37777536 (PubMed )
Supplement: 41467_2023_41860_MOESM2_ESM.pdf

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

Younis H et al.

Journal of Personalized Medicine, 2022

Generation and Phenotype Identification of PAX4 Gene Knockout Rabbit by CRISPR/Cas9 System.

Xu Y et al.

G3 (bethesda, Md.), 2018

The Diabetes-Linked Transcription Factor PAX4: From Gene to Functional Consequences.

Lorenzo PI et al.

Genes, 2017

PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.

Sujjitjoon J et al.

Journal of Human Genetics, 2016

Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9.

Sujjitjoon J et al.

Acta Diabetologica, 2016

PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus.

Mellado-Gil JM et al.

Diabetologia, 2016

Activin A-induced expression of PAX4 in AR42J-B13 cells involves the increase in transactivation of E47/E12.

Kanno R et al.

Biochimica Et Biophysica Acta, 0

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