Results 71 to 80 of about 2,287 (160)

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

Frontiers in Neurology, 2021
Introduction: Duchenne (DMD) and Becker (BMD) muscular dystrophy are X-linked muscular disorders produced by mutations in the DMD gene which encodes the protein dystrophin.
Alicia Alonso-Jiménez, Alicia Alonso-Jiménez, Esther Fernández-Simón, Esther Fernández-Simón, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Sonia Segovia, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Eduard Gallardo, Eduard Gallardo, Isabel Illa, Isabel Illa, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera   +36 more
doaj   +1 more source

Multiorgan Molecular Landscape of Severe COVID‐19 Revealed by Consensus Gene Signatures and RAB8B Targeting

Journal of Medical Virology, Volume 98, Issue 4, April 2026.
ABSTRACT Severe COVID‐19 involves hyperinflammation and multiorgan pathology, but consistent gene signatures remain elusive. We aimed to identify consensus transcriptomic signatures and molecular mechanisms in severe COVID‐19. We performed an integrative analysis of 39 studies spanning 11 tissue types, 1551 bulk RNA‐seq samples, and over 2 million ...
Jonathan Peña Avila, Peter Park, Youvika Singh, Paulo P. Amaral, Ícaro Castro, Felipe Ten‐Caten, Viviane Schuch, André N. A. Gonçalves, Jeevan Giddaluru, Mauro César Cafundó Morais, Rodrigo L. T. Ogava, Thiago Lubiana, Gabriel Amoroso de Castro, Rodrigo Aquino, Luiz Durão, Júlia Raspante Martins, Leandro Jimenez, André G. Costa‐Martins, Patrícia Gonzalez‐Dias, Thiago Dominguez Crespo Hirata, Thomaz Lüscher Dias, Débora Guerra Peixe, Adriana Simizo, Juan Carlo Santos e Silva, Amanda Pereira Vasconcelos, Marcelo Berçot Rodrigues, Bianca G. Castelucci, João Victor Virgillio‐da‐Silva, Larissa Menezes, Pedro M. Moraes‐Vieira, Otavio Cabral‐Marques, Helder I. Nakaya   +31 more
wiley   +1 more source

A novel variant in DYSF gene: A case report

, 2020
The DYSF gene is located on chromosome 2p13, which spans a genomic region of more than 230 kbp and comprises 55 exons.It encodes a transmembrane protein DYSF which has been linked to membrane repair, Ca2+ signaling, cell adhesion, andangiogenesis ...
Ayhan, Raşit, Kardaş, Fatih, Baysal, Kübra, Dündar, Munis, Aktaş Paskal, Şeyma   +4 more
core  

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients

, 2010
International audienceMutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM\₀03494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis
Bartoli, Marc, Lévy, Nicolas, Labelle, Veronique, Borges, Ana, Krahn, Martin   +4 more
core   +1 more source

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

, 2022
Aims Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle ...
Schaefer, A.M., Laing, N.G., Ravenscroft, G., Hayhurst, H., Folland, C., Trajanoski, D., Johnsen, R., Guglieri, M., Barresi, R., Lamont, P.J., Davis, M.R., Botero Gomez, A., Moore, U., Straub, V.   +13 more
core  

Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle

Scientific Reports, 2021
Muscular dystrophies are disorders characterized by progressive muscle loss and weakness that are both genotypically and phenotypically heterogenous. Progression of muscle disease arises from impaired regeneration, plasma membrane instability, defective ...
David Y. Barefield, Jordan J. Sell, Ibrahim Tahtah, Samuel D. Kearns, Elizabeth M. McNally, Alexis R. Demonbreun   +5 more
doaj   +1 more source

Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling

Molecular Therapy: Methods & Clinical Development
Mutations in the DYSF gene, encoding the protein dysferlin, lead to several forms of muscular dystrophy. In healthy skeletal muscle, dysferlin concentrates in the transverse tubules and is involved in repairing the sarcolemma and stabilizing Ca2 ...
Joaquin Muriel, Valeriy Lukyanenko, Thomas A. Kwiatkowski, Yi Li, Sayak Bhattacharya, Kassidy K. Banford, Daniel Garman, Hannah R. Bulgart, Roger B. Sutton, Noah Weisleder, Robert J. Bloch   +10 more
doaj   +1 more source

Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes

Cellular Physiology and Biochemistry, 2015
Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi, Vaibhavkumar S. Gawali, Helmut Kubista, Hannes Todt, Karlheinz Hilber, Xaver Koenig   +5 more
doaj   +1 more source

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

BMC Pediatrics, 2022
Background Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic ...
Jason Katz, Anatalia Labilloy, Andrew Lee   +2 more
doaj   +1 more source

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +1 more source