Results 81 to 90 of about 3,092 (251)

Anesthetic Care of a Child With Merosin-Deficient Muscular Dystrophy

Journal of Medical Cases, 2020
Merosin-deficient congenital muscular dystrophy (MDCMD) is a progressive autosomal recessive disorder caused by the lack of expression of the α2-chain of laminin-211 glycoprotein. The defect results in skeletal muscle dysfunction with severe muscle weakness, hypotonia, proximal joint contractures, facial dysmorphism, and late or failed ambulation ...
Munlemvo, Dolly M., Kanaparthi, Anuradha, Tobias, Joseph D.   +2 more
openaire   +3 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 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

Survie cellulaire : différences et différenciation [PDF]

, 2006
Les mécanismes de la régulation de la survie cellulaire et de l’apoptose sont d’une nature très complexe, impliquant de nombreux intervenants et de nombreuses voies de signalisation aussi bien dans la prise de décision de survivre (ou de mourir) que dans
Vachon, Pierre H.
core  

Modulation of intra-epithelial expansion of human T24 bladder-carcinoma cells in murine urothelium by growth factors and extracellular-matrix components [PDF]

, 1995
The high recurrence rate of bladder cancer is probably due to an efficient repopulation of the bladder by residual transformed cells after resection of the tumour. However, the regenerating capacity of the normal urothelial cells is very high.
Kwast, Th.H. (Theo) van der, Rebel, J.M.J. (Annemarie), Thijssen, C.D.E.M. (C. D E M), Vermey, M., Zwarthoff, E.C. (Ellen)   +4 more
core   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology, Volume 11, Issue 9, Page 2392-2405, September 2024.
Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
wiley   +1 more source

Avian neural crest cell attachment to laminin: involvement of divalent cation dependent and independent integrins [PDF]

, 1991
The mechanisms of neural crest cell interaction with laminin were explored using a quantitative cell attachment assay. With increasing substratum concentrations, an increasing percentage of neural crest cells adhere to laminin.
Bronner-Fraser, Marianne, Lallier, Thomas   +1 more
core  

The conserved transmembrane proteoglycan Perdido/Kon-tiki is essential for myofibrillogenesis and sarcomeric structure in Drosophila [PDF]

, 2016
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Muscle differentiation requires the assembly of high-order structures called myofibrils, composed of sarcomeres.
Bischoff, Marcus, Estrada, Beatriz, Martín-Bermudo, María D., Pérez-Moreno, Juan J.   +3 more
core   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society, Volume 2, Issue 3, Page 242-247, September 2024.
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
wiley   +1 more source

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