Results 41 to 50 of about 52,464 (357)

Zebrafish models flex their muscles to shed light on muscular dystrophies

Disease Models & Mechanisms, 2012
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening.
Joachim Berger, Peter D. Currie
doaj   +1 more source

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der, Frants, R.R., Padberg, G.W.A.M.   +2 more
openaire   +4 more sources

A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]

, 2016
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena, Fernández-Chacón, Rafael, Gómez-Sánchez, Leonardo, Nieto González, José Luis, Rivero, María C, Servián Morilla, Emilia   +5 more
core   +1 more source

Mutation update for the ACTN2 gene

Human Mutation, Volume 43, Issue 12, Page 1745-1756, December 2022., 2022
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stability.
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese   +13 more
wiley   +1 more source

Facioscapulohumeral Muscular Dystrophy [PDF]

Neurologic Clinics, 2014
ABSTRACT Purpose of Review: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). Recent Findings: FSHD comprises two genetically distinct types that converge on a common ...
Jeffrey Statland, Rabi Tawil
openaire   +6 more sources

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
SummaryCachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Acharyya, Swarnali, Burghes, Arthur H M, Butchbach, Matthew E R, Carathers, Micheal, Fearon, Kenneth C H, Guttridge, Denis C, Hollingsworth, Michael A, Muscarella, Peter, Rafael-Fortney, Jill A, Ringel, Matthew D, Sahenk, Zarife, Saji, Motoyasu, Skipworth, Richard J E, Wang, Huating   +13 more
core   +1 more source

Nucleic acid nanostructure for delivery of CRISPR/Cas9‐based gene editing system

Interdisciplinary Medicine, Volume 1, Issue 1, January 2023., 2023
Multifunctional nucleic acid nanostructures, including RCA‐derived DNA, branched DNA, and hybrid DNA, have been developed for delivery of CRISPR/Cas9‐based gene editing system for gene therapy. Abstract CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR‐associated protein 9)‐based gene editing system has aroused great ...
Wantao Tang, Jianbing Liu, Baoquan Ding
wiley   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj  

Two-sample nonparametric test for proportional reversed hazards [PDF]

arXiv, 2022
Several works have been undertaken in the context of proportional reversed hazard rate (PRHR) since last few decades. But any specific statistical methodology for the PRHR hypothesis is absent in the literature. In this paper, a two-sample nonparametric test based on two independent samples is proposed for verifying the PRHR assumption.
arxiv  

Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains

Brain Sciences, 2015
Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols, Shin'ichi Takeda, Toshifumi Yokota   +2 more
doaj   +1 more source