Varaico: Literature-Extracted Genetic Variants

Gene:MYO1E
Variant:p.A159P
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MYO1E

NM_004998.4:p.A159P

Associated Papers

Genetic and environmental factors associated with alteration of filtration slit proteins and their functions: a scoping review.

Adepoju AA et al.

Frontiers in Nephrology, 2025

41368354 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

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

Podocyte Endocytosis in Regulating the Glomerular Filtration Barrier.

Tian X et al.

Frontiers in Medicine, 2022

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

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

Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.

Akchurin O et al.

Pediatric Nephrology (berlin, Germany), 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

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Sanna-Cherchi S et al.

Kidney International, 2011

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Mele C et al.

The New England Journal of Medicine, 2011

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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."