Results 91 to 100 of about 690 (122)

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
europepmc   +1 more source

Role of Perinatal Stem Cell Secretome as Potential Therapy for Muscular Dystrophies. [PDF]

Biomedicines
Pacilio S, Lombardi S, Costa R, Paris F, Petrocelli G, Marrazzo P, Cenacchi G, Alviano F.   +7 more
europepmc   +1 more source

Misregulation of the Ubiquitin-Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin-Glycoprotein Complex. [PDF]

Cells
Bozzi M, Sciandra F, Bigotti MG, Brancaccio A.   +3 more
europepmc   +1 more source

CRISPR Technology: Transforming the Future of Medicine and Diagnostics. [PDF]

Biochemistry
Iyer KA, Tenchov R, Lotti Diaz LM, Jain P, Thite T, Deng Y, Zhou QA.   +6 more
europepmc   +1 more source

[Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Zheng Y, Wang D, Jiang T, Yang D, Lu H.
europepmc   +1 more source

Life or death by NFκB, Losartan promotes survival in dy2J/dy2J mouse of MDC1A [PDF]

Cell Death and Disease, 2015
AbstractInflammation and fibrosis are well-defined mechanisms involved in the pathogenesis of the incurable Laminin α2-deficient congenital muscular dystrophy (MDC1A), while apoptosis mechanism is barely discussed. Our previous study showed treatment with Losartan, an angiotensin II type I receptor antagonist, improved muscle strength and reduced ...
M Rabie, S Mitrani-Rosenbaum
exaly   +3 more sources

Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research [PDF]

Skeletal Muscle, 2013
Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-α2. Studies with both mouse models and primary cultures of human MDC1A myogenic cells suggest that aberrant activation of cell death is a significant contributor to pathogenesis in laminin-α2 ...
Jeffrey Miller, Woodring E. Wright, Guido Stadler   +2 more
exaly   +4 more sources

Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A. [PDF]

Human Molecular Genetics, 2011
Congenital muscular dystrophy caused by laminin α2 chain deficiency (also known as MDC1A) is a severe and incapacitating disease, characterized by massive muscle wasting. The ubiquitin-proteasome system plays a major role in muscle wasting and we recently demonstrated that increased proteasomal activity is a feature of MDC1A.
Madeleine Durbeej, Virginie Carmignac, Zandra Körner   +2 more
exaly   +3 more sources

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-α2-deficient congenital muscular dystrophy (MDC1A) [PDF]

Skeletal Muscle, 2012
AbstractBackgroundLaminin-α2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available. Antagonists of the angiotensin II receptor type 1 (AT1), including the anti-hypertensive drug losartan, have been shown to block also the profibrotic action of transforming growth factor (TGF)-β ...
Markus A. Rüegg, Shuo Lin, Sarina Meinen   +2 more
exaly   +4 more sources

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EM.P.3.01 The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2

Neuromuscular Disorders, 2009
N F Clarke, C Beroud
exaly   +2 more sources