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

Pediatric nephrology (Berlin, Germany) | 2023

Pathogenic mutations in the non-muscle single-headed myosin, myosin 1E (Myo1e), are a rare cause of pediatric focal segmental glomerulosclerosis (FSGS). These mutations are biallelic, to date only reported as homozygous variants in consanguineous families. Myo1e regulates the actin cytoskeleton dynamics and cell adhesion, which are especially important for podocyte functions.

Pubmed ID: 35723736 RIS Download

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Associated grants

  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK083345

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Synaptopodin antibody [G1D4] (antibody)

RRID:AB_11161967

This monoclonal targets Synaptopodin

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Anti-myo1e (antibody)

RRID:AB_2909514

This polyclonal targets Myo1e

View all literature mentions