Results 91 to 100 of about 3,572 (228)

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

BMC Research Notes, 2011
Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin α2 chain, a component of the skeletal muscle extracellular matrix protein laminin-211.
Di Blasi Claudia, Bellafiore Emanuela, Salih Mustafa AM, Manzini M Chiara, Moore Steven A, Seidahmed Mohammed Z, Mukhtar Maowia M, Karrar Zein A, Walsh Christopher A, Campbell Kevin P, Mantegazza Renato, Morandi Lucia, Mora Marina   +12 more
doaj   +1 more source

CD9 Plays a Role in Schwann Cell Migration in Vitro [PDF]

, 1995
To identify molecules that regulate Schwann cell migration, we have generated a panel of monoclonal antibodies against Schwann cell surface antigens that modulate Schwann cell migration in in vitro bioassays.
Anton, Eva S., Hadjiargyrou, Michael, Matthew, William D., Patterson, Paul H.   +3 more
core   +1 more source

Merosin‐deficient congenital muscular dystrophy: neuropathology case reports [PDF]

Journal of Cellular and Molecular Medicine, 2000
AbstractThe aims of our study were: to present cases of congenital muscular dystrophy (CMD) with deficiency in merosin and the importance of immunohistochemistry in the diagnosis of merosin‐deficient CMD. In four years (1997‐2000), we found three patients with merosin‐deficient CMD, one of them having an unusual clinical and pathological manifestation ...
Emilia, Manole, Marilena, Alexianu
openaire   +2 more sources

The congenital muscular dystrophies

Annals of the Child Neurology Society, Volume 2, Issue 1, Page 27-39, March 2024.
Abstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders. Results CMD is characterized
Haluk Topaloğlu, Bita Poorshiri
wiley   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Partial Merosin Deficiency and Precocious Puberty

Electronic Journal of General Medicine, 2015
The congenital muscular dystrophies (CMD) are autosomal-recessive disorders. Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD). Precocious puberty in girls has been defined by Marshal and Tanner in 1969.
EKLİOGLU, Beray Selver, AKYUREK, Nesibe, YUCA, Sevil Arı, ATABEK, Mehmet Emre   +3 more
openaire   +3 more sources

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC Medical Genomics, 2021
Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai   +5 more
doaj   +1 more source

Whole‐body muscle magnetic resonance imaging characteristics of children with merosin‐deficient congenital muscular dystrophy

Developmental Medicine & Child Neurology, 2018
nosed with a genetic disorder or syndrome. Materials/Methods: Samples of remnant or biopsied muscle and a vial (K2EDTA vacutainer tubes) of blood were obtained during surgery.
M. Delgado, Y. Kanaan, D. Wilkes, D. Baldwin, T. EL-SOBKY, N. Elsayed, H. Sakr   +6 more
semanticscholar   +1 more source

Speziesspezifische proteomische Aspekte der axonalen Regeneration retinaler Ganglienzellen am Beispiel der Ratte (Rattus norvegicus) und des Affen (Callithrix jacchus) [PDF]

, 2004
Die axonale Regeneration im Zentralen Nervensystem (ZNS) ist ein äußerst komplexer Vorgang, der unter natürlichen Bedingungen nicht stattfindet, gleichwohl jedoch prinzipiell möglich ist.
Imming, Peter (Prof. Dr.), Rose, Karin
core   +1 more source