Varaico: Literature-Extracted Genetic Variants

Gene:MYO1E
Variant:p.Y695*
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MYO1E

NM_004998.4:p.Y695*

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

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

Krendel M et al.

Pediatric Nephrology (berlin, Germany), 2023

Effect of cyclosporine A on focal segmental glomerulosclerosis caused by MYO1E mutation in a Chinese adult patient: A case report.

Li R et al.

Medicine, 2023

Podocyte Endocytosis in Regulating the Glomerular Filtration Barrier.

Tian X et al.

Frontiers in Medicine, 2022

A no-nonsense approach to hereditary kidney disease.

Tokhmafshan F et al.

Pediatric Nephrology (berlin, Germany), 2020

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

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

Akchurin O et al.

Pediatric Nephrology (berlin, Germany), 2015

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."