[HTML][HTML] Overview of the muscle cytoskeleton

CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Muscular dystrophies involving the dystrophin–glycoprotein complex: an overview of current mouse models

M Durbeej, KP Campbell - Current opinion in genetics & development, 2002 - Elsevier
The dystrophin–glycoprotein complex (DGC) is a multisubunit complex that connects the
cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC …

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

R Bashir, S Britton, T Strachan, S Keers, E Vafiadaki… - Nature …, 1998 - nature.com
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited
progressive muscle disorders that affect mainly the proximal musculature, with evidence for …

Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

S Noguchi, EM McNally, KB Othmane, Y Hagiwara… - Science, 1995 - science.org
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive
muscle-wasting disorder common in North Africa that segregates with microsatellite markers …

Progressive muscular dystrophy in α-sarcoglycan–deficient mice

F Duclos, V Straub, SA Moore, DP Venzke… - The Journal of cell …, 1998 - rupress.org
Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder
caused by mutations in the α-sarcoglycan gene. To determine how α-sarcoglycan deficiency …

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

LE Lim, F Duclos, O Broux, N Bourg, Y Sunada… - Nature …, 1995 - nature.com
Abstract β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral
component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan …

β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

CG Bönnemann, R Modi, S Noguchi, Y Mizuno… - Nature …, 1995 - nature.com
The dystrophin associated proteins (DAPs) are good candidates for harboring primary
mutations in the genetically heterogeneous autosomal recessive muscular dystrophies …

[图书][B] ДНК-диагностика и медико-генетическое консультирование в неврологии

СН Иллариошкин, ИА Иванова-Смоленская… - 2002 - elibrary.ru
Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Mutations in the sarcoglycan genes in patients with myopathy

DJ Duggan, JR Gorospe, M Fanin… - … England Journal of …, 1997 - Mass Medical Soc
Background Some patients with autosomal recessive limb-girdle muscular dystrophy have
mutations in the genes coding for the sarcoglycan proteins (α-, β-, γ-, and δ-sarcoglycan). To …

HILS1 is a spermatid-specific linker histone H1-like protein implicated in chromatin remodeling during mammalian spermiogenesis

W Yan, L Ma, KH Burns… - Proceedings of the …, 2003 - National Acad Sciences
Chromatin remodeling is a major event that occurs during mammalian spermiogenesis, the
process of spermatid maturation into spermatozoa. Nuclear condensation during …