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 …
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 …
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 …
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 …
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 …
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 …
Монография посвящена современным возможностям ДНК-диагностики и основанного на ней медико-генетического консультирования при наследственных заболеваниях …
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 …
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 …