Results 121 to 130 of about 3,708 (153)

Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene

Nature Genetics, 1994
The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2.
Xu, H., Wu, X.-R., Wewer, Ulla M., Engvall, E.   +3 more
openaire   +3 more sources

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy

Human Mutation, 1998
Jerry R. Mendell, Zarife Sahenk, S Madhoo   +2 more
exaly   +2 more sources

Efficient LAMA1 Gene Activation by Epigenome Editing as a Therapeutic Approach for LAMA2-CMD

Human Gene Therapy
Epigenome editing technology holds great promise for treating diverse genetic disorders. In this study, we demonstrate epigenetic activation of the LAMA1 gene for the treatment of LAMA2 -CMD, a severe congenital muscle dystrophy (CMD) caused by ...
Yuanbo, Qin, Talha, Akbulut, Rajakumar, Mandraju, Keith, Connolly, John, Bechill, Farzaneh, Assadian, Claudia, Foster, Alison, Shottek, Seth, Levy, Jamie, Benoit, Tetsuya, Yamagata   +10 more
exaly   +3 more sources

Congenital Muscular Dystrophies Molecular Diagnosis: From the LAMA2 Gene to NGS

QScience Proceedings, 2020
The autosomal recessive Congenital Muscular Dystrophies associated with a merosin deficiency, also known as type 1A muscular dystrophy (MDC1A), results from mutations of the LAMA2 gene. This large gene, composed of 65 exons, encodes the a2-chain subunit of laminin-2 (merosin).
openaire   +1 more source

Immune-Related Genes LAMA2 and IL1R1 Correlate with Tumor Sites and Predict Poor Survival in Pancreatic Adenocarcinoma

Future Oncology, 2021
Aims: The aim of this study was to identify the immune- and locus-associated genes in pancreatic ductal adenocarcinoma and evaluate their value in prognosis. Methods: The pancreatic ductal adenocarcinoma stromal and immune scores were calculated with the estimation of stromal and immune cells in malignant tumor tissues using expression data algorithm ...
Mengna Zhang, Lirong Zeng, Yanan Peng, Bin Fan, PengFei Chen, Jing Liu   +5 more
openaire   +2 more sources

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019
Congenital muscular dystrophies (CMD) are a heterogeneous group of disorders caused by mutations in musculoskeletal proteins. The most common type of CMD in Europe is Merosin-deficient CMD caused by mutations in laminin-α2 protein. Very few studies reported pathogenic variants underlying these disorders especially from Africa. In this study we report a
Mutaz, Amin, Yousuf, Bakhit, Mahmoud, Koko, Mohamed Osama Mirgahni, Ibrahim, M A, Salih, Muntaser, Ibrahim, Osheik A, Seidi   +6 more
openaire   +2 more sources

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

Nature Genetics, 1995
Congenital muscular dystrophies (CMDs), are heterogeneous autosomal recessive disorders. Their severe manifestations consist of early hypotonia and weakness, markedly delayed motor milestones and contractures, often associated with joint deformities. Histological changes seen in muscle biopsies consist of large variations in muscle fibre size, a few ...
Anne Helbling-Leclerc, Xu Zhang, Haluk Topaloglu, Corinne Cruaud, Frédérique Tesson, Jean Weissenbach, Fernando M.S. Tomé, Ketty Schwartz, Michel Fardeau, Karl Tryggvason, Pascale Guicheney   +10 more
openaire   +2 more sources

Progressive Muscular Dystrophy in Adults from Mutations in LAMA2 Gene (1520)

Neurology, 2021
V Vedanarayanan, Varun Sreenivasan
openaire   +1 more source

Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency.

Laboratory investigation; a journal of technical methods and pathology, 2000
Mutations in laminin alpha2, a subunit of the basement membrane protein laminin-2/merosin, cause merosin-deficient congenital muscular dystrophy. To gain insight into the molecular mechanism of disease, we generated and used a mutant mouse, dyW, in which the lacZ gene was inserted into the lama2 gene so that beta-galactosidase would be expressed in ...
W, Kuang, H, Xu, J T, Vilquin, E, Engvall   +3 more
openaire   +1 more source

Phenotypic variability of myopathies associated with LAMA2 gene mutations

European Journal of Paediatric Neurology, 2017
Filipe Palavra, Carmen Costa, Vera Ribeiro, Henriqueta Araújo, Isabel Fineza   +4 more
openaire   +1 more source