Results 31 to 40 of about 1,438 (185)

Therapeutic exon ‘switching’ for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
We read with interest but also some surprise, the recent ‘Therapeutic exon skipping for Dysferlinopathies?' article by Aartsma-Rus et al,1 published in the Eur J Hum Genet (advance online publication, 10 February 2010; doi:10.1038/ejhg.2010.4). This report contains some inaccuracies and mistakes, and we do not agree with some of its main contents ...
Lévy, Nicolas, Wein, Nicolas, Barthelemy, Florian, Mouly, Vincent, Garcia, Luis, Krahn, Martin, Bartoli, Marc   +6 more
openaire   +2 more sources

Novel diagnostic features of dysferlinopathies [PDF]

Muscle & Nerve, 2010
AbstractReports of dysferlinopathy have suggested a clinically heterogeneous group of patients. We identified specific novel molecular and phenotypic features that help distinguish dysferlinopathies from other forms of limb‐girdle muscular dystrophy (LGMD). A detailed history, physical exam, and protein and mutation analysis of genomic DNA was done for
Xiomara Q, Rosales, Julie M, Gastier-Foster, Sarah, Lewis, Malik, Vinod, Devon L, Thrush, Caroline, Astbury, Robert, Pyatt, Shalini, Reshmi, Zarife, Sahenk, Jerry R, Mendell   +9 more
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Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy [PDF]

, 2023
Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in ...
Mori-Yoshimura, Madoka, Jones, Kristi J, Diaz-Manera, Jordi, Stojkovic, Tanya, Mayhew, Anna, Day, John W., Wilson, Ian, Carlier, Pierre G, Fernández-Simón, Esther, Cox, Dan, Bravver, Elena, Fernández Simón, Esther, Bharucha-Goebel, Diana X., Mayhew, Anna G., Walter, Maggie C., Jones, Kristi J., Blamire, Andrew, Pestronk, Alan, Carlier, Pierre G., Mendell, Jerry R, Rufibach, Laura, Salort-Campana, Emmanuelle, Bushby, Kate, Mendell, Jerry R., Rufibach, Laura E., Day, John W, Paradas, Carmen, Schiava, Marianela, Straub, Volker, Walter, Maggie C, The Jain COS Consortium, Bharucha-Goebel, Diana X, James, Meredith K., Pegoraro, Elena, Moore, Ursula, Gordish-Dressman, Heather, Universitat Autònoma de Barcelona, James, Meredith K, Guglieri, Michela, Bharucha-Goebel, Diana   +39 more
core   +3 more sources

The Clinical Outcome Study for dysferlinopathy [PDF]

, 2016
Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this ...
Mayhew, Anna, Bettinson, Karen, Harris, Elizabeth, James, Meredith, Cnaan, Avital, The Jain Cos Consortium, Bladen, Catherine   +6 more
core   +2 more sources

Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review

BMC Medical Genomics, 2022
Background Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of ...
Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca   +7 more
doaj   +1 more source

P.165 Clinical outcome study of dysferlinopathy: lower limb water T2 predicts functional decline in patients with dysferlinopathy [PDF]

, 2022
Water-T2 (T2H2O) mapping is used in muscular dystrophies to assess disease activity. It has been suggested as a surrogate outcome measure for clinical trials.
Carlier, P, James, M, Smith, F, Straub, V, Moore, U, Blamire, A, Gordish-Dressman, H, Mayhew, A, Manera, J Díaz, Rufibach, L, Wilson, J, Reyngoudt, H, de Almeida Araujo, E Caldas, Stojkovic, T   +13 more
core   +1 more source

Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle

Frontiers in Physiology, 2022
Dysferlin-null A/J myofibers generate abnormal Ca2+ transients that are slightly reduced in amplitude compared to controls. These are further reduced in amplitude by hypoosmotic shock and often appear as Ca2+ waves (Lukyanenko et al., J. Physiol., 2017).
Valeriy Lukyanenko, Joaquin Muriel, Daniel Garman, Daniel Garman, Leonid Breydo, Robert J. Bloch   +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

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Acta Neuropathologica Communications, 2023
Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert   +13 more
doaj   +1 more source

Dual Effects of Exercise in Dysferlinopathy [PDF]

The American Journal of Pathology, 2013
Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair. The condition is characterized by marked clinical heterogeneity, the different phenotypes/modes of presentation being unrelated to the genotype.
Biondi, Olivier, Villemeur, Marie, Marchand, Alice, Chrétien, Fabrice, Bourg, Nathalie, Gherardi, Romain, Richard, Isabelle, Authier, François-Jérôme   +7 more
openaire   +3 more sources