Results 131 to 140 of about 2,671 (159)

Characterization of the expression profile of calpain-3 (CAPN3) gene in chicken

Molecular Biology Reports, 2011
Calpain-3 is a skeletal muscle-specific protease and participates in the regulation of myogenesis. In this study, we quantified the expression of calpain-3 (CAPN3) mRNA in a Chinese local chicken breed (Sichuan Mountainous Black-boned chicken [MB]), to discern the tissue and ontogenic expression pattern. Meanwhile, we compared the CAPN3 mRNA expression
Yi-Ping Liu, Yong-Gang Yao, Yao Yong-Gang   +2 more
exaly   +3 more sources

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay

Neuromuscular Disorders, 2007
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date.
Stanislav Vohánka, Jiří Fajkus, Markéta Hermanová   +2 more
exaly   +3 more sources

CAPN3 mutations in patients with idiopathic eosinophilic myositis

Annals of Neurology, 2006
AbstractObjectiveEosinophilic myositis (EM) constitutes a rare pathological entity characterized by eosinophilic infiltration of skeletal muscles, usually associated with parasite infections, systemic disorders, or the intake of drugs or L‐tryptophan. The exclusion of such causes defines the spectrum of idiopathic EM.
Martin, Krahn, Adolfo, Lopez de Munain, Nathalie, Streichenberger, Rafaëlle, Bernard, Christophe, Pécheux, Hervé, Testard, José L, Pena-Segura, Eugenia, Yoldi, Ana, Cabello, Norma B, Romero, Juan J, Poza, Sandrine, Bouillot-Eimer, Xavier, Ferrer, Maria, Goicoechea, Federico, Garcia-Bragado, France, Leturcq, J Andoni, Urtizberea, Nicolas, Lévy   +17 more
openaire   +2 more sources

Mutation spectrum of CAPN3 gene in LGMD2A patients in Croatia

European journal of human genetics, 2002
Background. Our previous results have shown that the most frequent mutation in CANP3 gene in patients from Croatia is the 550delA mutation, while the Y537X mutation was found only in 1 family. We report the results of the screening of CANP3 gene on 27 families, 8 of them never investigated, in which one or both mutations have been identified. Objective.
Canki-Klain, Nina, Kovač, Biserka, Milić, Astrid, Trlaja, Anuška, Mitrović, Zoran   +4 more
  +5 more sources

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Neuropathology and Applied Neurobiology, 2020
AimsRecessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in‐frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy.
L. González‐Mera, G. Ravenscroft, M. Cabrera‐Serrano, N. Ermolova, C. Domínguez‐González, A. Arteche‐López, P. Soltanzadeh, F. Evesson, C. Navas, F. Mavillard, J. Clayton, P. Rodrigo, E. Servián‐Morilla, S. T Cooper, L. Waddell, K. Reardon, A. Corbett, A. Hernandez‐Laín, A. Sanchez, J. Esteban Perez, C. Paradas‐Lopez, E. Rivas‐Infante, M. Spencer, N. Laing, M. Olivé   +24 more
openaire   +3 more sources

Development of an inducible system to assess p94 (CAPN3) function in cultured muscle cells

Journal of Biotechnology, 2002
p94 belongs to the calpain family of enzymes, also called calcium-activated neutral proteases and is mainly expressed in the skeletal muscle. Mutations affecting the gene coding for p94 are responsible for a myopathy syndrome called Limb Girdle Muscular Dystrophy type 2A (LGMD2A).
Elise, Dargelos, Catherine, Moyen, Stéphane, Dedieu, Philippe, Veschambre, Sylvie, Poussard, Karine, Vuillier-Devillers, Jean-Jacques, Brustis, Patrick, Cottin   +7 more
openaire   +2 more sources

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

Acta myologica, 2002
Aim.To screen general population for 550delA mutation because our previous study showed that calpainopathy (LGMD2A) is the prevalent autosomal recessive muscular dystrophy in Croatia with high frequency of 550delA mutation (63, 8% ; 23/36 of CAPN3 chromosomes). Methods. We used allele specific PCR, which proved to be less time consuming then previously
Grgičević, Damir, Canki-Klain, Nina, Kovač, Biserka, Trlaja, Anuška   +3 more
openaire   +1 more source

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clinical Genetics, 2011
no ...
Krahn, M., Goicoechea, M., Hanisch, F., Groen, E., Bartoli, Marc, Pecheux, C., Garcia-Bragado, F., Leturcq, F., Jeannet, P-y, Lobrinus, J. A., Jacquemont, S., Strober, J., Urtizberea, J. A., Saenz, A., Bushby, K., Lévy, Nicolas, Munain, A.   +16 more
openaire   +2 more sources

Limb Girdle Muscular Dystrophy Type 2A (CAPN3): Mapping Using Allelic Association

Human Heredity, 1998
Recently a graphical study of linkage disequilibrium around the CAPN3 locus failed to refine the 1.3-Mb interval suggested by haplotype sharing. On the contrary, the Malecot model as implemented in the ALLASS program maps CAPN3 within 3 kb of its true location (23 kb from the locus midpoint), overcoming identified problems with small samples ...
Lonjou, Christine, Collins, Andrew, Beckmann, Jacques, Allamand, Valérie, Morton, Newton   +4 more
openaire   +3 more sources

The Unified CAPN3 Model — Integrating Molecular, Mechanical, and Regenerative Dynamics in Calpainopathy and the Therapeutic Rationale for AAV-CAPN3 Gene Restoration

This preprint proposes a unified signaling-based pathomechanistic model of Calpainopathy (LGMDR1), integrating CAPN3’s structural, calcium-regulatory, and RTK–RAS–MAPK stabilization functions. The work presents a mechanistic explanation for exercise sensitivity, delayed recovery, impaired regeneration, and long-term satellite-cell decline.
openaire   +1 more source