Works matching DE "DYSTROPHIN"

Results: 761

Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb muscles.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 81, doi. 10.1007/s10048-006-0031-7

By:

Baker, Patrick E.;
Kearney, Jessica A.;
Gong, Bendi;
Merriam, Anita P.;
Kuhn, Donald E.;
Porter, John D.;
Rafael-Fortney, Jill A.

Publication type:

Article

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Published in:

Neurogenetics, 2005, v. 6, n. 1, p. 29, doi. 10.1007/s10048-004-0204-1

By:

Janssen, B.;
Hartmann, C.;
Scholz, V.;
Jauch, A.;
Zschocke, J.

Publication type:

Article

Functional Substitution by TAT-Utrophin in Dystrophin-Deficient Mice.

Published in:

PLoS Medicine, 2009, v. 6, n. 5, p. 1, doi. 10.1371/journal.pmed.1000083

By:

Sonnemann, Kevin J.;
Heun-Johnson, Hanke;
Turner, Amy J.;
Baltgalvis, Kristen A.;
Lowe, Dawn A.;
Ervasti, James M.

Publication type:

Article

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #614 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/614.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9143

By:

Kristin Becker;
Stephanie A. Robb;
Zandra Hatton;
Shu Ching Yau;
Stephen Abbs;
Roland G. Roberts

Publication type:

Article

SYSTEMATIC REVIEW OF GENETIC CAUSE IN DUCHENNE MUSCULAR DYSTROPHY.

Published in:

Genetics & Applications, 2023, p. 63

By:

Amina, Aleta;
Ahmed, Pupalović;
Faris, Hrvat

Publication type:

Article

A comparison study of prabotulinumtoxinA vs onabotulinumtoxinA in myostatin‐deficient mice with muscle hypertrophy.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2019, v. 124, n. 4, p. 491, doi. 10.1111/bcpt.13151

By:

Bak, Dong‐ho;
Choi, Mi Ji;
Lee, Esther;
Kwon, Tae‐Rin;
Kim, Jong Hwan;
Nam, Sang‐Hyun;
Kim, Kyoung‐Yun;
Ahn, Seung Won;
Mun, Seog‐Kyun;
Na, Jungtae;
Kim, Beom Joon

Publication type:

Article

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235

By:

Komaki, Hirofumi;
Takeshima, Yasuhiro;
Matsumura, Tsuyoshi;
Ozasa, Shiro;
Funato, Michinori;
Takeshita, Eri;
Iwata, Yasuyuki;
Yajima, Hiroyuki;
Egawa, Yoichi;
Toramoto, Takuya;
Tajima, Masaya;
Takeda, Shinichi

Publication type:

Article

Gadolinium reduces short-term stretch-induced muscle damage in isolated mdx mouse muscle fibres.

Published in:

Journal of Physiology, 2003, v. 552, n. 2, p. 449, doi. 10.1113/jphysiol.2003.047373

By:

Yeung, Ella W.;
Head, Stewart I.;
Allen, David G.

Publication type:

Article

Progress in therapy for Duchenne muscular dystrophy.

Published in:

Experimental Physiology, 2011, v. 96, n. 11, p. 1101, doi. 10.1113/expphysiol.2010.053025

By:

Fairclough, Rebecca J.;
Bareja, Akshay;
Davies, Kay E.

Publication type:

Article

Branched fibres in old dystrophic mdx muscle are associated with mechanical weakening of the sarcolemma, abnormal Ca<sup>2+</sup> transients and a breakdown of Ca<sup>2+</sup> homeostasis during fatigue.

Published in:

Experimental Physiology, 2010, v. 95, n. 5, p. 641, doi. 10.1113/expphysiol.2009.052019

By:

Head, Stewart I.

Publication type:

Article

Nuclear Small Dystrophin Isoforms during Muscle Differentiation.

Published in:

Life (2075-1729), 2023, v. 13, n. 6, p. 1367, doi. 10.3390/life13061367

By:

Donandt, Tina;
Todorow, Vanessa;
Hintze, Stefan;
Graupner, Alexandra;
Schoser, Benedikt;
Walter, Maggie C.;
Meinke, Peter

Publication type:

Article

Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma.

Published in:

Frontiers in Psychology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01369

By:

Percival, Justin M.

Publication type:

Article

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 6, p. 591, doi. 10.1111/j.1365-2990.2012.01250.x

By:

Taylor, L. E.;
Kaminoh, Y. J.;
Rodesch, C. K.;
Flanigan, K. M.

Publication type:

Article

Role of tumour necrosis factor α, but not of cyclo-oxygenase-2-derived eicosanoids, on functional and morphological indices of dystrophic progression in mdx mice: a pharmacological approach.

Published in:

Neuropathology & Applied Neurobiology, 2007, v. 33, n. 3, p. 344, doi. 10.1111/j.1365-2990.2007.00798.x

By:

Pierno, S.;
Nico, B.;
Burdi, R.;
Liantonio, A.;
Didonna, M. P.;
Cippone, V.;
Fraysse, B.;
Rolland, J.-F.;
Mangieri, D.;
Andreetta, F.;
Ferro, P.;
Camerino, C.;
Zallone, A.;
Confalonieri, P.;
De Luca, A.

Publication type:

Article

Disturbed trafficking of dystrophin and associated proteins in targetoid phenomena after chronic muscle denervation.

Published in:

Neuropathology & Applied Neurobiology, 2004, v. 30, n. 3, p. 255, doi. 10.1046/j.0305-1846.2004.00529.x

By:

von Fellenberg, A.;
Lin, S.;
Burgunder, J.-M.

Publication type:

Article

Restoration of dystrophin expression in cultured hybrid myotubes.

Published in:

Neuropathology & Applied Neurobiology, 2002, v. 28, n. 5, p. 397, doi. 10.1046/j.1365-2990.2002.00409.x

By:

Radojevic, V.;
Oppliger, C.;
Gaschen, F.;
Burgunder, J.-M.

Publication type:

Article

Genetic modelling of muscular dystrophies.

Published in:

Neuropathology & Applied Neurobiology, 1998, v. 24, n. 2, p. 96, doi. 10.1046/j.1365-2990.1998.00005.x

By:

Ward;
Davies;
Ward

Publication type:

Article

How do physical capacity, fatigue and performance differ in children with duchenne muscular dystrophy compared with their healthy peers?

Published in:

Neurosciences, 2018, v. 23, n. 1, p. 39, doi. 10.17712/nsj.2018.1.20170242

By:

Mutlu, Akmer;
Alkan, Halil;
Fırat, Tüzün;
Karaduman, Aynur A.;
Yılmaz, Öznur T.

Publication type:

Article

An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.

Published in:

Genes, 2024, v. 15, n. 11, p. 1489, doi. 10.3390/genes15111489

By:

Leckie, Jamie;
Zia, Abdullah;
Yokota, Toshifumi

Publication type:

Article

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy.

Published in:

Genes, 2022, v. 13, n. 7, p. 1241, doi. 10.3390/genes13071241

By:

Eser, Gökçe;
Topaloğlu, Haluk

Publication type:

Article

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.

Published in:

Genes, 2020, v. 11, n. 10, p. 1180, doi. 10.3390/genes11101180

By:

Xie, Zhiying;
Tang, Liuqin;
Xie, Zhihao;
Sun, Chengyue;
Shuai, Haoyue;
Zhou, Chao;
Liu, Yilin;
Yu, Meng;
Zheng, Yiming;
Meng, Lingchao;
Zhang, Wei;
Leal, Suzanne M.;
Wang, Zhaoxia;
Schrauwen, Isabelle;
Yuan, Yun

Publication type:

Article

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene.

Published in:

Genes, 2020, v. 11, n. 10, p. 1175, doi. 10.3390/genes11101175

By:

Brunetti, Barbara;
Muscatello, Luisa V.;
Letko, Anna;
Papa, Valentina;
Cenacchi, Giovanna;
Grillini, Marco;
Murgiano, Leonardo;
Jagannathan, Vidhya;
Drögemüller, Cord

Publication type:

Article

Dystrophin Dp116: A Yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene.

Published in:

Genes, 2017, v. 8, n. 10, p. 251, doi. 10.3390/genes8100251

By:

Masafumi Matsuo;
Hiroyuki Awano;
Masaaki Matsumoto;
Masashi Nagai;
Tatsuya Kawaguchi;
Zhujun Zhang;
Hisahide Nishio

Publication type:

Article

2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping.

Published in:

Genes, 2017, v. 8, n. 2, p. 67, doi. 10.3390/genes8020067

By:

Tomoko Lee;
Hiroyuki Awano;
Mariko Yagi;
Masaaki Matsumoto;
Nobuaki Watanabe;
Ryoya Goda;
Makoto Koizumi;
Yasuhiro Takeshima;
Masafumi Matsuo

Publication type:

Article

Altered expression of dystrophin within the thoracic aorta in coarctation.

Published in:

Cardiology in the Young, 2005, v. 15, n. 1, p. 73, doi. 10.1017/S1047951105000144

By:

Vatta, Matteo;
Chang, Anthony C.;
McMahon, Colin J.

Publication type:

Article

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201916

By:

Ashton, Emma J.;
Yau, Shu C.;
Deans, Zandra C.;
Abbs, Stephen J.

Publication type:

Article

Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0301-0

By:

Beibei Wu;
Liying Wang;
Ting Dong;
Jiahui Jin;
Yili Lu;
Huiping Wu;
Yue Luo;
Xiaoou Shan

Publication type:

Article

Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197084

By:

Lee, Joshua;
Echigoya, Yusuke;
Duddy, William;
Saito, Takashi;
Aoki, Yoshitsugu;
Takeda, Shin’ichi;
Yokota, Toshifumi

Publication type:

Article

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195850

By:

Beekman, Chantal;
Janson, Anneke A.;
Baghat, Aabed;
van Deutekom, Judith C.;
Datson, Nicole A.

Publication type:

Article

Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194636

By:

Kogelman, Bauke;
Khmelinskii, Artem;
Verhaart, Ingrid;
Vliet, Laura Van;
Bink, Diewertje I.;
Aartsma-Rus, Annemieke;
Putten, Maaike Van;
Weerd, Louise Van Der

Publication type:

Article

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194540

By:

Sardone, Valentina;
Ellis, Matthew;
Torelli, Silvia;
Feng, Lucy;
Chambers, Darren;
Eastwood, Deborah;
Sewry, Caroline;
Phadke, Rahul;
Morgan, Jennifer E.;
Muntoni, Francesco

Publication type:

Article

Expression profiling of disease progression in canine model of Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194485

By:

Brinkmeyer-Langford, Candice;
Chu, Candice;
Balog-Alvarez, Cynthia;
Yu, Xue;
Cai, James J.;
Nabity, Mary;
Kornegay, Joe N.

Publication type:

Article

The enzymatic processing of α-dystroglycan by MMP-2 is controlled by two anchoring sites distinct from the active site.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192651

By:

Gioia, Magda;
Fasciglione, Giovanni Francesco;
Sbardella, Diego;
Sciandra, Francesca;
Casella, MariaLuisa;
Camerini, Serena;
Crescenzi, Marco;
Gori, Alessandro;
Tarantino, Umberto;
Cozza, Paola;
Brancaccio, Andrea;
Coletta, Massimo;
Bozzi, Manuela

Publication type:

Article

GRMD cardiac and skeletal muscle metabolism gene profiles are distinct.

Published in:

BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0257-2

By:

Markham, Larry W.;
Brinkmeyer-Langford, Candice L.;
Soslow, Jonathan H.;
Gupte, Manisha;
Sawyer, Douglas B.;
Kornegay, Joe N.;
Galindo, Cristi L.

Publication type:

Article

Increased Density of Dystrophin Protein in the Lateral Versus the Vermal Mouse Cerebellum.

Published in:

Cellular & Molecular Neurobiology, 2013, v. 33, n. 4, p. 513, doi. 10.1007/s10571-013-9917-8

By:

Snow, Wanda;
Fry, Mark;
Anderson, Judy

Publication type:

Article

Membrane guanylate cyclase, a multimodal transduction machine: history, present, and future directions.

Published in:

Frontiers in Molecular Neuroscience, 2014, p. 1, doi. 10.3389/fnmol.2014.00056

By:

Sharma, Rameshwar K.;
Duda, Teresa

Publication type:

Article

Electroretinography (ERG) for Clinical Evaluation of Vision Abnormalities - A Clinical Study of 9 Dogs.

Published in:

Intas Polivet, 2016, v. 17, n. 2, p. 429

By:

Kelawala, D. N.;
Patil, D. B.;
Parikh, P. V.;
Sini, K. R.;
Kothamdi, U. Y.

Publication type:

Article

VACUOLAR MYOPATHY.

Published in:

Romanian Journal of Neurology, 2008, v. 7, n. 2, p. 79

By:

Alexianu, Marilena;
Manole, Emilia;
Dan, Andrei

Publication type:

Article

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Published in:

Nature Medicine, 2015, v. 21, n. 4, p. 414, doi. 10.1038/nm0415-414b

By:

Wein, Nicolas;
Vulin, Adeline;
Falzarano, Maria S;
Szigyarto, Christina Al-Khalili;
Maiti, Baijayanta;
Findlay, Andrew;
Heller, Kristin N;
Uhlén, Mathias;
Bakthavachalu, Baskar;
Messina, Sonia;
Vita, Giuseppe;
Passarelli, Chiara;
Gualandi, Francesca;
Wilton, Steve D;
Rodino-Klapac, Louise R;
Yang, Lin;
Dunn, Diane M;
Schoenberg, Daniel R;
Weiss, Robert B;
Howard, Michael T

Publication type:

Article

Activating internal ribosome entry to treat Duchenne muscular dystrophy.

Published in:

Nature Medicine, 2014, v. 20, n. 9, p. 987, doi. 10.1038/nm.3677

By:

Lamandé, Shireen R;
North, Kathryn N

Publication type:

Article

Exon-skipping drug pulls ahead in muscular dystrophy field.

Published in:

Nature Medicine, 2012, v. 18, n. 9, p. 1314, doi. 10.1038/nm0912-1314

By:

Opar, Alisa

Publication type:

Article

NO may prompt calcium leakage in dystrophic muscle.

Published in:

Nature Medicine, 2009, v. 15, n. 3, p. 243, doi. 10.1038/nm0309-243

By:

Tidball, James G.;
Villalta, S. Armando

Publication type:

Article

Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors.

Published in:

Nature Medicine, 2006, v. 12, n. 10, p. 1147, doi. 10.1038/nm1479

By:

Minetti, G. C.;
Colussi, C.;
Adami, R.;
Serra, C.;
Mozzetta, C.;
Parente, V.;
Fortuni, S.;
Straino, S.;
Sampaolesi, M.;
Di Padova, M.;
Illi, B.;
Gallinari, P.;
Steinkühler, C.;
Capogrossi, M. C.;
Sartorelli, V.;
Bottinelli, R.;
Gaetano, C.;
Puri, P. L.

Publication type:

Article

rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice.

Published in:

Nature Medicine, 2006, v. 12, n. 7, p. 787, doi. 10.1038/nm1439

By:

Gregorevic, Paul;
Allen, James M;
Minami, Elina;
Blankinship, Michael J;
Haraguchi, Miki;
Meuse, Leonard;
Finn, Eric;
Adams, Marvin E;
Froehner, Stanley C;
Murry, Charles E;
Chamberlain, Jeffrey S

Publication type:

Article

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.

Published in:

Nature Medicine, 2003, v. 9, n. 8, p. 1009, doi. 10.1038/nm897

By:

Qi Long Lu;
Mann, Christopher J.;
Fang Lou;
Bou-Gharios, George;
Morris, Glenn E.;
Shao-an Xue;
Fletcher, Sue;
Partridge, Terence A.;
Wilton, Stephen D.

Publication type:

Article

Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy.

Published in:

Nature Medicine, 2002, v. 8, n. 3, p. 253, doi. 10.1038/nm0302-253

By:

Harper, Scott Q.;
Hauser, Michael A.;
DelloRusso, Christiana;
Duan, Dongsheng;
Crawford, Robert W.;
Phelps, Stephanie F.;
Harper, Hollie A.;
Robinson, Ann S.;
Engelhardt, John F.;
Brooks, Susan V.;
Chamberlain, Jeffrey S.

Publication type:

Article

Shrinking genes for therapy.

Published in:

Nature Medicine, 2002, v. 8, n. 3, p. 222, doi. 10.1038/nm0302-222

By:

Bonetta, Laura

Publication type:

Article

NO vascular control in Duchenne muscular dystrophy.

Published in:

Nature Medicine, 2001, v. 7, n. 1, p. 27, doi. 10.1038/83309

By:

Crosbie, Rachelle H.

Publication type:

Article

Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy.

Published in:

Nature Medicine, 1999, v. 5, n. 3, p. 320, doi. 10.1038/6543

By:

Badorff, Cornel;
Lee, Gil-Hwan;
Lamphear, Barry J.;
Martone, Maryann E.;
Campbell, Kevin P.;
Rhoads, Robert E.;
Knowlton, Kirk U.

Publication type:

Article

Expression of full-length utrophin prevents muscular dystrophy in mdx mice.

Published in:

Nature Medicine, 1998, v. 4, n. 12, p. 1441, doi. 10.1038/4033

By:

Tinsley, Jonathon;
Deconinck, Nicolas;
Fisher, Rosie;
Kahn, David;
Phelps, Steve;
Gillis, Jean-Marie;
Davies, Kay

Publication type:

Article