Results 1 to 10 of about 3,944 (168)

Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET [PDF]

Therapeutic Advances in Endocrinology and Metabolism, 2019
The laminin subunit alpha 2 (LAMA2) gene encodes an alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin).
Bo Zhang, Yan Ding, Jia-Cheng Lou
exaly   +4 more sources

Loss of cell-autonomously secreted laminin-α2 drives muscle stem cell dysfunction in LAMA2-related muscular dystrophy [PDF]

Nature Communications
The extracellular matrix protein laminin-α2 is essential for preserving the integrity of skeletal muscle fibers during contraction. Its importance is reflected by the severe, congenital LAMA2-related muscular dystrophy (LAMA2 MD) caused by loss-of ...
Timothy J. McGowan, Judith R. Reinhard, Nicolas Lewerenz, Marta Białobrzeska, Shuo Lin, Jacek Stępniewski, Krzysztof Szade, Józef Dulak, Markus A. Rüegg   +8 more
doaj   +2 more sources

A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype [PDF]

eLife
Our understanding of the molecular pathogenesis of LAMA2-related muscular dystrophy (LAMA2-MD) requires improving. Here, we report the phenotype, neuropathology, and transcriptomics data (scRNA-seq and bulk RNA-seq) of a new Lama2 knockout mouse (dyH/dyH)
Dandan Tan, Yidan Liu, Huaxia Luo, Qiang Shen, Xingbo Long, Luzheng Xu, Jieyu Liu, Nanbert A Zhong, Hong Zhang, Hui Xiong   +9 more
doaj   +2 more sources

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients [PDF]

Acta Neuropathologica Communications
Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the α2 subunit of laminin-211 (merosin).
Veronica Pini, Francesco Catapano, Rosa Bonaccorso, Ben Weisburd, Stefano C. Previtali, Francesco Muntoni   +5 more
doaj   +2 more sources

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy [PDF]

BMC Medical Genomics
LAMA2 encodes the alpha-2 subunit of a protein called Laminin. It consists of three subunits Y; alpha, beta and gamma. Alpha2 subunit from LAMA2 gene along with beta-2 and gamma-2 forms laminin-2 protein.
Parham Nejati, Nafiseh Falsafi, Elham Alimoradi, Teymoor Khosravi, Mohana Kamari, Morteza Oladnabi, Reza Alibakhshi   +6 more
doaj   +2 more sources

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study [PDF]

Frontiers in Neurology
BackgroundLAMA2-related congenital muscular dystrophy (LAMA2-MD) is a genetically heterogeneous disorder defined by progressive muscle weakness, brain structural abnormalities, epilepsy, and multisystem involvement.
Jian Zha, Ying Yu, Fangfang Cao, Zhaoshi Yi, Huaping Wu, Yong Chen, Jianmin Zhong, Xiongying Yu   +7 more
doaj   +2 more sources

Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence

Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Laminin subunit alpha 2 (LAMA2)-related muscular dystrophy (LAMA2 MD) is caused by homozygous or compound heterozygous mutations in LAMA2 (OMIM#156225), located on chromosome 6q22.
Syuan-Yu Hong, Chien-Heng Lin, Chieh-Ho Chen   +2 more
exaly   +2 more sources

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2–deficient muscle [PDF]

JCI Insight
Laminin-α2–related congenital muscular dystrophy (LAMA2-CMD) is a severe neuromuscular disorder caused by mutations in the LAMA2 gene, leading to loss of heterotrimers laminin-211/221, key components of the skeletal muscle extracellular matrix.
Hailey J. Hermann, Ryan D. Wuebbles, Marisela Dagda, Axel Muñoz, Lauren L. Parker, Paula C. Guzman, Lola T. Byrne, Steven A. Moore, Dean J. Burkin   +8 more
doaj   +2 more sources

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin

Molecular Therapy - Methods and Clinical Development, 2018
LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene ...
Sheryl S Moy, Yi Dai, Quan Jin
exaly   +3 more sources

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants [PDF]

SAGE Open Medical Case Reports
Laminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy.
Azita Tavasoli, Shayan Eghdami, Maryam Kachuei, Saman Rouzbeh   +3 more
doaj   +2 more sources