Results 71 to 80 of about 2,650 (160)

A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy

Cell Reports Medicine, 2020
Summary: Mutations in CAPN3 cause limb girdle muscular dystrophy R1 (LGMDR1, formerly LGMD2A) and lead to progressive and debilitating muscle wasting. Calpain 3 deficiency is associated with impaired CaMKIIβ signaling and blunted transcriptional programs
Jian Liu, Jesus Campagna, Varghese John, Robert Damoiseaux, Ekaterina Mokhonova, Diana Becerra, Huan Meng, Elizabeth M. McNally, April D. Pyle, Irina Kramerova, Melissa J. Spencer   +10 more
doaj   +1 more source

Myopathy With Exercise‐Induced Intolerance due to Novel Biallelic Variants in OBSCN—A Clinical, Morphological and Molecular Analysis

Neuropathology and Applied Neurobiology, Volume 52, Issue 1, February 2026.
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Heidrun H. Krämer‐Best, Marlen C. Reis, Andreas Hentschel, Michaela Weiß, Alexander Schaiter, Klaus‐Dieter Böhm, Andreas Roos, Dagmar Nolte, Anne Schänzer   +8 more
wiley   +1 more source

Female Anterior Cruciate Ligaments Exhibit a Muted Mechanobiological Response to Mechanical Loading

Journal of Orthopaedic Research, Volume 43, Issue 12, Page 2188-2202, December 2025.
ABSTRACT Female athletes are significantly more likely to tear their anterior cruciate ligament (ACL) compared to their male counterparts. While there are several potential reasons for this, previous data from our lab demonstrated that female ACL explants have an impaired remodeling response to loading, which may prevent the repair of fatigue damage ...
Lauren Paschall, Maxwell Konnaris, Erdem Tabdanov, Aman Dhawan, Spencer E. Szczesny   +4 more
wiley   +1 more source

Causal Associations Between 4907 Circulating Proteins and Hyperlipidemia: A Two‐Sample Mendelian Randomization Study Based on European Ancestry

Health Science Reports, Volume 8, Issue 11, November 2025.
ABSTRACT Background and Objective This study employed Mendelian randomization (MR) to investigate the causal relationships between 4907 circulating proteins and hyperlipidemia, with the aim of identifying potential drug targets. Methods Instrumental variables were derived from genome‐wide association study (GWAS) data on 4907 circulating proteins ...
Hui Cheng, Dayuan Zhong
wiley   +1 more source

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G

Stem Cell Research
Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237 ...
Karina Goluba, Vadims Parfejevs, Anastasija Neimane, Anastasija Tvoronovica, Baiba Lace, Mehrnaz Ghazvini, Inna Inashkina, Una Riekstina   +7 more
doaj   +1 more source

Семейство с Калпаин 3 свързана пояс-крайник мускулна дистрофия с атипично протичане, дължаща се на нова мутация

Българска неврология, 2022
Калпаин 3 (CAPN3) свързаната прогресивна мускулна дистрофия тип пояс-крайник (ПКМД) R1/2A e най-често срещаната форма от всички ПКМД в световен мащаб.
Ani Taneva, T. Chamova, A. Todorova, T. Todorov, M. Gospodinova, D. Zlatareva, M. Krupev, I. Tournev   +7 more
doaj  

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

PLoS ONE, 2017
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno   +3 more
doaj   +1 more source

CAPN3, DCT, MLANA and TYRP1 are overexpressed in skin of vitiligo vulgaris Mexican patients

Experimental and Therapeutic Medicine, 2018
Vitiligo is a disorder causing skin depigmentation, in which several factors have been proposed for its pathogenesis: Environmental, genetic and biological aspects of melanocytes, even those of the surrounding keratinocytes. However, the lack of understanding of the mechanisms has complicated the task of predicting the development and progression.
Salinas Santander, Mauricio Andrés, Treviño Alvarado, Víctor Manuel, De la Rosa Moreno, Eduardo I., Verduzco Garza, Bárbara, Sánchez Domínguez, Celia Nohemí, Cantú Salinas, Cristina Susana, Ocampo Garza, Jorge, Lagos Rodríguez, Armando, Ocampo Candiani, Jorge, Ortiz López, Rocío   +9 more
openaire   +4 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

Patterns and Processes of Genomic Evolution Inferred From the Ten Smallest Vertebrate Genomes

Advanced Science, Volume 12, Issue 38, October 13, 2025.
By integrating phylogenetic relationships derived from nuclear DNA with population genetic analyses across ten pufferfish species, the genetic differentiation mechanisms underpinning the radiative speciation of the most compact vertebrate genomes has elucidated.
Kaiqiang Liu, Qian Wang, Ning Wang, Lingfeng Meng, Shuo Li, Hong‐Yan Wang, Yuyan Liu, Qian Liu, Yangqing Zhang, Lucas B. Doretto, Mengqi Zhang, Yating Qin, Shanshan Pan, Shenglei Han, Weijing Li, Shanshan Liu, Fengtao Gao, Axel Meyer, Jussi Taipale, Guangyi Fan, Manfred Schartl, Jilin Zhang, Changwei Shao   +22 more
wiley   +1 more source