Results 41 to 50 of about 32,083 (123)

Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology

Frontiers in Molecular Neuroscience, 2020
LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and ...
Anthony Accorsi, Megan L. Cramer, Mahasweta Girgenrath   +2 more
doaj   +1 more source

Treating pediatric neuromuscular disorders: The future is now

American Journal of Medical Genetics Part A, Volume 176, Issue 4, Page 804-841, April 2018., 2018
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review.
James J. Dowling, Hernan D. Gonorazky, Ronald D. Cohn, Craig Campbell   +3 more
wiley   +1 more source

Copy Number Variations in a Population‐Based Study of Charcot‐Marie‐Tooth Disease

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot‐Marie‐Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population‐based sample of Charcot‐Marie‐Tooth
Helle Høyer, Geir J. Braathen, Anette K. Eek, Gry B. N. Nordang, Camilla F. Skjelbred, Michael B. Russell, Sarah H. Elsea   +6 more
wiley   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
A novel homozygous splice site variant in COL6A1 causing Ullrich congenital muscular dystrophy in a Malian family, emphasizing the importance of genetic studies in African cohorts to advance epidemiological knowledge and therapeutic development. ABSTRACT Background Congenital muscular dystrophies (CMDs) are diverse early‐onset conditions affecting ...
Alassane Baneye Maiga, Ibrahim Pamanta, Salia Bamba, Lassana Cissé, Salimata Diarra, Sidi Touré, Abdoulaye Yalcouyé, Seydou Diallo, Salimata Diallo, Fousseyni Kané, Seybou Hassane Diallo, Hamidou Oumar Ba, Cheick Oumar Guinto, Kenneth Fischbeck, Guida Landoure, Idrissa Ahmadou Cissé, The H3Africa Consortium   +16 more
wiley   +1 more source

Reviewing Large LAMA2 Deletions and Duplications in Congenital MuscularDystrophy Patients [PDF]

, 2014
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle stability establishing a bond ...
Oliveira, Márcia E., Gonçalves, Ana, Fineza, Isabel, Oliveira, Jorge, Pavanello, Rita C. M., Sousa, Mário, Vainzof, Mariz, Bronze-da-Rocha, Elsa, Santos, Rosário   +8 more
core   +1 more source

MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM

Педиатрическая фармакология, 2014
Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of ...
O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov   +2 more
doaj   +1 more source

Video_1_A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD.MP4

, 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 (8741268), Madeleine Durbeej (189440)   +1 more
core   +1 more source

Profiling urine miRNAs as biomarkers of disease progression in LAMA2-CMD

, 2020
We have sequenced microRNAs in urine of the dy2J/dy2J mouse model of LAMA2-CMD at 3, 4 and 6 weeks of age, representing none, initial and severe symptoms, respectively.
Bernardo Moreira Soares Oliveira
core   +1 more source

LAMA2-CMD: establishment of a new gene therapy strategy using an in vitro model

, 2023
Tese de mestrado, Biologia Molecular e Genética, 2023, Universidade de Lisboa, Faculdade de CiênciasIn skeletal muscle tissue, the basement membrane lining the sarcolemma coats and protects myofibers from contraction-induced damage.
Fernandes, Diogo Rodrigues
core   +2 more sources