Results 41 to 50 of about 2,650 (160)

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 [PDF]

Muscle & Nerve, 2017
ABSTRACTIntroduction: A calpain‐3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb‐girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. Methods: Probands heterozygous for CAPN3 c.643_663del21
Jennifer M, Martinez-Thompson, Zhiyv, Niu, Jennifer A, Tracy, Steven A, Moore, Andrea, Swenson, Eric D, Wieben, Margherita, Milone   +6 more
openaire   +2 more sources

Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.

PLoS ONE, 2010
BackgroundCalpain 3 (Capn3), also named p94, is a skeletal muscle tissue-specific protein known to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A).
Sante Roperto, Roberta De Tullio, Cinzia Raso, Roberto Stifanese, Valeria Russo, Marco Gaspari, Giuseppe Borzacchiello, Monica Averna, Orlando Paciello, Gianni Cuda, Franco Roperto   +10 more
doaj   +1 more source

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz   +8 more
doaj   +1 more source

Epilepsy Combined With Multiple Gene Heterozygous Mutation

Frontiers in Pediatrics, 2022
The fast pace of gene discovery has resulted in groundbreaking advances in the field of epilepsy genetics. Clinical testing using comprehensive gene panels, exomes, or genomes is now increasingly available and has significantly increased the diagnostic ...
He Qiuju, He Qiuju, He Qiuju, Zhuang Jianlong, Wen Qi, Wen Qi, Wen Qi, Li Zhifa, Wang Ding, Wang Ding, Sun Xiaofang, Sun Xiaofang, Xie Yingjun, Xie Yingjun   +13 more
doaj   +1 more source

Аutosomal recessive limb-girdle muscular dystrophy type 2A: two cases in Ukraine with different age of onset

Medičnì Perspektivi, 2021
The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakness
Yu.H. Antipkin, L.H. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, V.V. Orzheshkovskyi, A.F. Nechay   +5 more
doaj   +1 more source

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

BMC Musculoskeletal Disorders, 2021
Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +8 more
doaj   +1 more source

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

Muscle & Nerve
AbstractIntroduction/AimsLimb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4).
Andrea Valls, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munain, Amets Sáenz   +6 more
openaire   +5 more sources

Characterization of a novel CAPN3 transcript generated by alternative splicing in cattle

Genetics and Molecular Research, 2015
Calpain-3 (CAPN3) is a member of the calpain family of Ca(2+)-regulated cysteine proteases, which play an important role in sarcomere remodeling and mitochondrial protein turnover, and thus, regulating beef tenderness in cattle. Currently, multiple CAPN3 transcripts have been detected in human, monkey, rat, and rabbit.
S Y, Liu, H, Jiang, B, Yuan, Y, Gao, L S, Dai, J B, Zhang   +5 more
openaire   +2 more sources

Effect of CAPN3 gene genotypes on productive traits and carcass traits of broiler

University of Thi-Qar Journal of agricultural research, 2021
Determining the genotypes of the CAPN3 gene and studying its relationship to some economic characteristics of broiler chickens, which included weekly weights, final live weight, carcass weight and carcass parts weights, in addition to the correlation coefficient for some important Ross characteristics. 308 chickens, in which 100 chicks were bred for 35
null Iman Abdul Amir Thbit, null Ali A. Abdulkareemm, null Abdullah Hameed Salim   +2 more
openaire   +3 more sources

Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches

Pathophysiology, 2021
Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties. The
İzem Olcay Şahin, Yusuf Özkul, Munis Dündar   +2 more
doaj   +1 more source