Results 71 to 80 of about 4,375 (200)

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Chinese Medical Journal, 2016
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. Methods: Eighty-nine index patients were included in the study.
Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang   +5 more
doaj   +1 more source

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists.
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev   +16 more
doaj   +1 more source

A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy [PDF]

, 2015
Importance Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP).
Beekly, Duane L., Boxer, Adam, Chatzopoulou, Doxa, Chen, Jason A., Chui, Helena, Coppola, Giovanni, Cotman, Carl, Davis-Turak, Jeremy, DeCarli, Charles, Faber, Kelley M., Foroud, Tatiana M., Geschwind, Daniel H., Haase, Claudia M., Hsu, Sandy C., Huang, Alden Y., Karydas, Anna M., Klein, Eric, Kukull, Walter A., Lee, Jason, Levenson, Robert W., Levey, Allan I., Li, Yun, Mendez, Mario F., Miller, Bruce L., Miller, Josh, Poon, Wayne W., Ringman, John, Rosen, Ami, Rosen, Howard, Sapozhnikova, Anna, Sears, Renee L., Shapira, Jill, Varpetian, Arousiak, Wang, Qing, Wojta, Kevin J.   +34 more
core   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PLoS ONE, 2011
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa   +8 more
doaj   +1 more source

Extracellular Particles Derived From Mesenchymal Stromal Cells Reduce Pseudomonas aeruginosa Lung Infection and Inflammation in Mice

Journal of Extracellular Biology, Volume 5, Issue 2, February 2026.
ABSTRACT The World Health Organization and the U.S. Centre for Disease Control and Prevention have reported that antibiotic‐resistant infections with Pseudomonas aeruginosa present a significant health risk worldwide. In the genetic disease Cystic Fibrosis (CF), chronic antibiotic‐resistant Pseudomonas lung infections and persistent inflammation remain
Sharanya Sarkar, Roxanna Barnaby, Zachary Faber, Lily Taub, Carolyn Roche, Lily A. Charpentier, Thomas H. Hampton, Brad Vietje, Douglas J. Taatjes, Byoung‐Kyu Cho, Young Ah Goo, Matthew J. Wargo, Daniel J. Weiss, Tracey L. Bonfield, Thomas J. Kelley, Bruce A. Stanton   +15 more
wiley   +1 more source

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

Saudi Medical Journal, 2017
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad ...
Ullah, Muhammad I., Ahmad, Arsalan, Žarković, Milena, Shah, Syed S., Nasir, Abdul, Mahmood, Saqib, Ahmad, Wasim, Hübner, Christian A., Hassan, Muhammad J.   +8 more
openaire   +2 more sources

Bent Spine Syndrome: A Phenotype of Dysferlinopathy or a Symptomatic DYSF Gene Mutation Carrier [PDF]

European Neurology, 2012
Bent spine syndrome : a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation ...
István Gáti, Olof Danielsson, Cecilia Gunnarsson, Magnus Vrethem, Bo Häggqvist, Bengt-Arne Fredriksson, Anne-Marie Landtblom   +6 more
openaire   +1 more source

Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2

Research Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova, Alexandra I. Radchenko, Andrey А. Manuylov, Ariana M. Korokina, Natalia V. Koroleva, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Mikhail V. Korokin   +8 more
doaj   +1 more source

Echocardiographic findings associated with mortality or transplant in patients with pulmonary arterial hypertension: A systematic review and meta-analysis [PDF]

, 2016
Background Identification of patients at risk of deterioration is essential to guide clinical management in pulmonary arterial ...
Baggen, V.J.M. (Vivan), Bosch, A.E. (Annemien) van den, Dijk, A.P.J. (Arie) van, Driessen, M.M.P. (Mieke M.P.), Post, M.C. (Martijn), Roos-Hesselink, J.W. (Jolien), Sieswerda, G.T. (Gertjan), Takkenberg, J.J.M. (Hanneke)   +7 more
core   +6 more sources