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287 Newest Publications about the topic muscular dystrophy


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Clinical Utility Gene Card for: Becker muscular dystrophy

21-Feb-2018 | David Coote; Mark R. Davis; Macarena Cabrera; Merrilee Needham; Nigel G. Laing; Kristen J. Nowak, European Journal of Human Genetics, 2018

Clinical Utility Gene Card for: Becker muscular dystrophy Clinical Utility Gene Card for: Becker muscular dystrophy, Published online: 21 February 2018; doi:10.1038/s41431-017-0064-4 Clinical Utility Gene Card for: Becker muscular dystrophy


Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

15-Dec-2017 | Russell J. Butterfield; Diane M. Dunn; Ying Hu; Kory Johnson; Carsten G. Bönnemann; Robert B. Weiss, PLoS ONE, 2017

by Russell J. Butterfield, Diane M. Dunn, Ying Hu, Kory Johnson, Carsten G. Bönnemann, Robert B. Weiss Objectives The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular ...


Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells

01-Dec-2017 | Yuki Nagata; Tohru Kiyono; Kikuo Okamura; Yu-ichi Goto; Masafumi Matsuo; Madoka Ikemoto-Uezumi; Naohiro Hashimoto, PLoS ONE, 2017

by Yuki Nagata, Tohru Kiyono, Kikuo Okamura, Yu-ichi Goto, Masafumi Matsuo, Madoka Ikemoto-Uezumi, Naohiro Hashimoto Duchenne muscular dystrophy (DMD) is a severe X-linked recessive muscle disorder caused by mutations in the dystrophin gene. Nonetheless, secondary processes involving ...


Making the cut

01-Dec-2017 | Stella Hurtley; Orla M. Smith, Science , 2017

Muscular Dystrophy Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), a fatal childhood muscle disease. Amoasii et al. sought to optimize the correction of DMD mutations by CRISPR-Cas9 gene editing. They first generated mice in which exon 50, a common mutational hotspot ...


Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

21-Nov-2017 | Baziel Engelen; Gizem Özel; Janet Sowden; Jelle J Goeman; Judit Balog; Karlien Mul; Kirsten R Straasheijm; Laur ..., European Journal of Human Genetics, 2017

Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2). A clinical hallmark ...


Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury

24-Oct-2017 | Mattia Quattrocelli; Joanna Capote; Joyce C. Ohiri; James L. Warner; Andy H. Vo; Judy U. Earley; Michele Hadhazy; Al ..., PLoS Genetics, 2017

by Mattia Quattrocelli, Joanna Capote, Joyce C. Ohiri, James L. Warner, Andy H. Vo, Judy U. Earley, Michele Hadhazy, Alexis R. Demonbreun, Melissa J. Spencer, Elizabeth M. McNally Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma ...


Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing

07-Sep-2017 | Banerjee A, Vest KE, Pavlath GK, et al., Nucleic Acids Research, 2017

Abstract The polyadenylate binding protein 1 (PABPN1) is a ubiquitously expressed RNA binding protein vital for multiple steps in RNA metabolism. Although PABPN1 plays a critical role in the regulation of RNA processing, mutation of the gene encoding this ubiquitously expressed RNA binding ...


Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study

25-Aug-2017 | Farzad Fatehi; Emmanuelle Salort-Campana; Arnaud Le Troter; Emilie Lareau-Trudel; Mark Bydder; Alexandre Fouré; Maxi ..., PLoS ONE, 2017

by Farzad Fatehi, Emmanuelle Salort-Campana, Arnaud Le Troter, Emilie Lareau-Trudel, Mark Bydder, Alexandre Fouré, Maxime Guye, David Bendahan, Shahram Attarian Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known ...


Building an intelligent integrated method of gene selection for facioscapulohumeral muscular dystrophy diagnosis

14-Jul-2017 | Divya Anand; Babita Pandey; Devendra K. Pandey, International Journal of Biomedical Engineering and Technology, 2017

Building an intelligent integrated method of gene selection for facioscapulohumeral muscular dystrophy diagnosisDivya Anand; Babita Pandey; Devendra K. PandeyInternational Journal of Biomedical Engineering and Technology, Vol. 24, No. 3 (2017) pp. 285 - 296These days, the genetic testing of ...


Juvenile‐onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C

07-Jul-2017 | Nivedita Patni, Chao Xing, Anil K. Agarwal, Abhimanyu Garg, American Journal of Medical Genetics Part A, 2017

The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in ...


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