Varaico: Literature-Extracted Genetic Variants

Gene:MYO1E
Variant:p.T119I
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MYO1E

NM_004998.4:p.T119I

Associated Papers

Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.

Liu PJ et al.

Cytoskeleton (hoboken, N.j.), 2024

Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.

Krendel M et al.

Pediatric Nephrology (berlin, Germany), 2023

Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.

Liu PJ et al.

Journal of the American Society of Nephrology : Jasn, 2022

Tail domains of myosin-1e regulate phosphatidylinositol signaling and F-actin polymerization at the ventral layer of podosomes.

Zhang Y et al.

Molecular Biology of the Cell, 2019

Effects of FSGS-associated mutations on the stability and function of myosin-1 in fission yeast.

Bi J et al.

Disease Models & Mechanisms, 2015

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH et al.

Journal of Human Genetics, 2013

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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."