Results 71 to 80 of about 2,671 (159)

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

Annals of Neurology, Volume 99, Issue 2, Page 393-407, February 2026.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai, Joanne Wuu, Magdalena Koziczak‐Holbro, Andrea Malaspina, Volkan Granit, Jessica P. Hernandez, Anne Cooley, Ruchika Sachdev, Lili Yu, Michael Bidinosti, Ludivine Flotte, Mark Nash, Lori L. Jennings, James D. Berry, Lucie I. Bruijn, Sophie Brachat, Michael Benatar   +16 more
wiley   +1 more source

Assessment Association Between CAPN3 and ADRB3 Genes Polymorphism and Estimated Breeding Values (EBVs) of

پژوهشهای علوم دامی ایران, 2011
The current study was designed to estimate the frequency of CAPN3 and ADRB3 genes single nucleotide polymorphisms (SNPs) and investigate if their polymorphisms have association with estimated breeding values (EBVs) of growth traits in Baluchi sheep ...
M Tahmoorespur, D Karimi
doaj  

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

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

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +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

Upcycled Animal Protein Hydrolysates for Gilthead Seabream: Impact on Growth Performance, Nutrient Utilisation, Intestinal Structure and Skeletal Muscle Gene Expression

Aquaculture Nutrition, Volume 2026, Issue 1, 2026.
The development of local circular feed systems has increased interest in protein hydrolysates (PHs) derived from processed animal proteins (PAPs), which can upcycle protein‐rich streams into functional aquafeed ingredients. This study evaluated novel PHs sourced from insect meal (Hermetia illucens), fish by‐products and swine by‐products as ...
A. Alves-de-Oliveira, M. Monteiro, T. Sá, A. Filipa-Silva, A. Almeida, F. Kokou, L. M. P. Valente, Ikram Belghit   +7 more
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

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

Whole‐Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families

Human Mutation, Volume 2026, Issue 1, 2026.
Background Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed.
Nasibeh Soltani, Zahra Shahbazi, Mohammad Sadegh Fallah, Morteza Karimipoor, Hamideh Bagherian, Samira Dabbagh Bagheri, Tina Shirzadeh, Fatemeh Zafarghandi Motlagh, Gelareh Rabie Salehi, Shahrzad Younesikhah, Sadaf Asnavandi, Razie Zeinali, Ziba Majidi, Sirous Zeinali, Neetu Rawal   +14 more
wiley   +1 more source