Results 21 to 30 of about 3,708 (153)

Micro-laminin gene therapy can function as an inhibitor of muscle disease in the dyW mouse model of MDC1A

Molecular Therapy: Methods & Clinical Development, 2021
Gene replacement for laminin-α2-deficient congenital muscular dystrophy 1A (MDC1A) is currently not possible using a single adeno-associated virus (AAV) vector due to the large size of the LAMA2 gene.
Davin Packer, Paul T. Martin
doaj   +1 more source

MYLK*FLNB and DOCK1*LAMA2 gene-gene interactions associated with rheumatoid arthritis in the focal adhesion pathway. [PDF]

Front Genet
Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease caused by a combination of genetic and environmental factors. Rare variants with low predicted effects in genes participating in the same biological function might be involved in developing complex diseases such as RA.
Veyssiere M, Rodriguez Ordonez MDP, Chalabi S, Michou L, Cornelis F, Boland A, Olaso R, Deleuze JF, Petit-Teixeira E, Chaudru V.   +9 more
europepmc   +5 more sources

LAMA2 Gene Analysis in Congenital Muscular Dystrophy [PDF]

Archives of Neurology, 2005
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Di Blasi, Claudia, Piga, Daniela, Brioschi, Paolo, Moroni, Isabella, Pini, Antonella, Ruggieri, Alessandra, Zanotti, Simona, Uziel, Graziella, Jarre, Laura, Della Giustina, Elvio, Scuderi, Carmela, Jonsrud, Christoffer, Mantegazza, Renato, Morandi, Lucia, Mora, Marina   +14 more
openaire   +3 more sources

Alu Deletions in LAMA2 and CDH4 Genes Are Key Components of Polygenic Predictors of Longevity

International Journal of Molecular Sciences, 2022
Longevity is a unique human phenomenon and a highly stable trait, characterized by polygenicity. The longevity phenotype occurs due to the ability to successfully withstand the age-related genomic instability triggered by Alu elements. The purpose of our cross-sectional study was to evaluate the combined contribution of ACE*Ya5ACE, CDH4*Yb8NBC516 ...
Vera V. Erdman, Denis D. Karimov, Ilsia A. Tuktarova, Yanina R. Timasheva, Timur R. Nasibullin, Gulnaz F. Korytina   +5 more
openaire   +2 more sources

LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling

Stem Cell Research & Therapy, 2020
Background Bone defects are a common clinical condition that has gained an increasing amount of attention in recent years. Causes of bone defect include tumors, inflammation, and fractures. Bone tissue engineering is a novel treatment of bone defect, and
Yuan Zhu, Xiao Zhang, Ranli Gu, Xuenan Liu, Siyi Wang, Dandan Xia, Zheng Li, Xiaomin Lian, Ping Zhang, Yunsong Liu, Yongsheng Zhou   +10 more
doaj   +1 more source

A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review

Frontiers in Medicine, 2022
BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disorder that predominantly affects the right ventricle.
Yue Wang, Yibing Fang, Dan Zhang, Yifei Li, Shuhua Luo   +4 more
doaj   +1 more source

Muscle-Specific Kinase Signaling and Its Therapeutic Potential. [PDF]

Muscle Nerve
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Jensen SM, Vergoossen DLE, Huijbers MG.
europepmc   +2 more sources

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients [PDF]

Clinical Genetics, 2008
Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin‐α2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin‐α2 expression in muscle, compatible with MDC1A.
Oliveira, J., Santos, R., Soares-Silva, I., Jorge, P., Vieira, E., Oliveira, M. E., Moreira, A., Coelho, T., Ferreira, J. C., Fonseca, M. J., Barbosa, C., Prats, J., Aríztegui, M. L., Martins, M. L., Moreno, T., Heinimann, K., Barbot, C., Pascual-Pascual, S. I., Cabral, A., Fineza, I., Santos, M., Bronze-da-Rocha, E.   +21 more
openaire   +4 more sources

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in Molecular Neuroscience, 2020
Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency.
Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni   +5 more
doaj   +1 more source

LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

Frontiers in Molecular Neuroscience, 2020
Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211.
Stefano Carlo Previtali, Stefano Carlo Previtali, Alberto Andrea Zambon   +2 more
doaj   +1 more source