Results 101 to 110 of about 342,419 (394)

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies

Journal of Neuromuscular Diseases, 2015
Over sixty years ago John Walton and Frederick Nattrass defined limb girdle muscular dystrophy (LGMD) as a separate entity from the X-linked dystrophinopathies such as Duchenne and Becker muscular dystrophies. LGMD is a highly heterogeneous group of very
A. Murphy, V. Straub
semanticscholar   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters.
Christina Steffke, Karthik Baskar, Franziska Bachhuber, Maximilian Wiesenfarth, Johannes Dorst, Joachim Schuster, Florian Schöberl, Peter Reilich, Martin Regensburger, Alexander German, René Günther, Maximilian Vidovic, Susanne Petri, Thomas Meyer, Tim Hagenacker, Julian Grosskreutz, Ute Weyen, Patrick Weydt, Thomas Haarmeier, Paul Lingor, Joachim Wolf, Andreas Hermann, Johannes Prudlo, Kornelia Günther, Antje Knehr, Zeynep Elmas, Zeljko Uzelac, Simon Witzel, Wolfgang Philipp Ruf, Axel Freischmidt, Ritchie Ho, Albert C. Ludolph, Jochen H. Weishaupt, Hayrettin Tumani, Patrick Oeckl, David Brenner, Alberto Catanese   +36 more
wiley   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Necroptosis mediates myofibre death in dystrophin-deficient mice

Nature Communications, 2018
Muscular dystrophies are characterised by extensive myofibre cell death. Here Morgan et al. show that RIPK3-mediated necroptosis contributes to myofibre cell death in Duchenne muscular dystrophy, and that RIPK3 deletion protects dystrophic mice against ...
Jennifer E. Morgan, Alexandre Prola, Virginie Mariot, Veronica Pini, Jinhong Meng, Christophe Hourde, Julie Dumonceaux, Francesco Conti, Frederic Relaix, Francois-Jerôme Authier, Laurent Tiret, Francesco Muntoni, Maximilien Bencze   +12 more
doaj   +1 more source

High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]

, 2018
Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa, Cardani, Rosanna, Cardinali, Beatrice, Carrara, Matteo, Fabio Martelli, And, Falcone, Germana, Fuschi, Paola, Manuel Garcia-Manteiga, Jose, Meola, Giovanni, Perfetti, Alessandra, Provenzano, Claudia, Valentina Renna, Laura   +11 more
core   +2 more sources

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source