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The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
(2016)
Abstract
Background
Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several ...
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
(2016)
Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation
(Elsevier, 2020)
Dysferlinopathy is a genetic human disease caused by mutations in the gene that encodes the dysferlin protein (DYSF). Dysferlin is believed to play a relevant role in cell membrane repair. However, in dysferlin-deficient ...
Caracterização clínica, genética e radiológica das disferlinopatias
(Universidade Federal de São Paulo, 2021)
Objetivos: O objetivo primário desse estudo foi realizar a caracterização clínica de aspectos motores e não-motores relacionados a pacientes com diagnóstico de disferlinopatias acompanhados no setor de investigação de ...