Results 1 to 10 of about 32,083 (123)

Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD [PDF]

PLoS ONE, 2017
MicroRNAs (miRNAs) are short non-coding RNAs that modulate gene expression post-transcriptionally. Current evidence suggests that miR-21 plays a significant role in the progression of fibrosis in muscle diseases.
Bernardo Moreira Soares Oliveira, Madeleine Durbeej, Johan Holmberg   +2 more
exaly   +7 more sources

A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD [PDF]

Frontiers in Molecular Neuroscience, 2020
The research on laminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD) advanced rapidly in the last few decades, largely due to availability of good mouse models for the disease and a strong interest in preclinical studies from scientists ...
Kinga I. Gawlik, Madeleine Durbeej
doaj   +7 more sources

Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD [PDF]

Skeletal Muscle, 2020
Background Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating genetic disease caused by mutations in the LAMA2 gene. These mutations result in progressive muscle wasting and inflammation leading to delayed milestones, and ...
Dean Burkin, Pamela Barraza‐Flores, Hailey J Hermann   +2 more
exaly   +7 more sources

Exploratory Profiling of Urine MicroRNAs in the dy^2J/dy^2J Mouse Model of LAMA2-CMD: Relation to Disease Progression.

PLoS Curr, 2018
Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available.
Moreira Soares Oliveira B, Gawlik KI, Durbeej M, Holmberg J.   +3 more
europepmc   +4 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   +3 more sources

Hypoglycemia in Patients With LAMA2-CMD

Pediatric Neurology, 2023
Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date.A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into two groups: a hypoglycemic group, with at least one episode of hypoglycemia ...
Umbertina Conti Reed, Clara Gontijo Camelo, Edmar Zanoteli   +2 more
exaly   +5 more sources

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine, 2020
Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini   +11 more
doaj   +2 more sources

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene [PDF]

Frontiers in Pediatrics, 2023
IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 ...
Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong   +6 more
doaj   +2 more sources

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]

J Cell Mol Med
ABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Zhao M, Liu Y, Fan L, Liu Z, Deng Y, Tao L.   +5 more
europepmc   +2 more sources

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Orphanet Journal of Rare Diseases, 2021
Background LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants.
Cheng Zhang, Wen-Hua Zhu, Juan ding
exaly   +2 more sources