Works matching DE "DYSTROPHIN genetics"

Results: 27

Immunohistochemical study on dystrophin expression in CAD-related sudden cardiac death: a marker of early myocardial ischaemia.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 5, p. 1333, doi. 10.1007/s00414-018-1843-3

By:

Mondello, Cristina;
Asmundo, Alessio;
Cardia, Luigi;
Bartoloni, Giovanni;
Ventura Spagnolo, Elvira

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. 5, p. 537, doi. 10.1038/nm0515-537c

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;
Brioschi, Simona;
Bovolenta, Matteo;
Neri, Marcella;
Gualandi, Francesca;
Wilton, Steve D;
Rodino-Klapac, Louise R;
Yang, Lin;
Dunn, Diane M

Publication type:

Article

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

Published in:

Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628

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

Motor Physical Therapy Affects Muscle Collagen Type I and Decreases Gait Speed in Dystrophin-Deficient Dogs.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093500

By:

Gaiad, Thaís P.;
Araujo, Karla P. C.;
Serrão, Júlio C.;
Miglino, Maria A.;
Ambrósio, Carlos Eduardo

Publication type:

Article

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080263

By:

Zaharieva, Irina T.;
Calissano, Mattia;
Scoto, Mariacristina;
Preston, Mark;
Cirak, Sebahattin;
Feng, Lucy;
Collins, James;
Kole, Ryszard;
Guglieri, Michela;
Straub, Volker;
Bushby, Kate;
Ferlini, Alessandra;
Morgan, Jennifer E.;
Muntoni, Francesco

Publication type:

Article

HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.

Published in:

Histochemistry & Cell Biology, 2016, v. 146, n. 3, p. 301, doi. 10.1007/s00418-016-1439-2

By:

Nishida, Atsushi;
Yasuno, Sato;
Takeuchi, Atsuko;
Awano, Hiroyuki;
Lee, Tomoko;
Niba, Emma;
Fujimoto, Takahiro;
Itoh, Kyoko;
Takeshima, Yasuhiro;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112

By:

Tsuda, Takeshi;
Fitzgerald, Kristi;
Scavena, Mena;
Gidding, Samuel;
Cox, Mary O;
Marks, Harold;
Flanigan, Kevin M;
Moore, Steven A

Publication type:

Article

Improved regenerative myogenesis and muscular dystrophy in mice lacking Mkp5.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2064, doi. 10.1172/JCI64375

By:

Hao Shi;
Verma, Mayank;
Lei Zhang;
Chen Dong;
Flavell, Richard A.;
Bennett, Anton M.

Publication type:

Article

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.

Published in:

Scientific Reports, 2015, p. 12831, doi. 10.1038/srep12831

By:

Shoji, Emi;
Sakurai, Hidetoshi;
Nishino, Tokiko;
Nakahata, Tatsutoshi;
Heike, Toshio;
Awaya, Tomonari;
Fujii, Nobuharu;
Manabe, Yasuko;
Matsuo, Masafumi;
Sehara-Fujisawa, Atsuko

Publication type:

Article

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84863-w

By:

Koeks, Z.;
Janson, A. A.;
Beekman, C.;
Signorelli, M.;
van Duyvenvoorde, H. A.;
van den Bergen, J. C.;
Hooijmans, M. T.;
Alleman, I.;
Hegeman, I. M.;
Verschuuren, J. J. G. M.;
v. Deutekom, J. C.;
Spitali, P.;
Datson, N. A.;
Niks, E. H.

Publication type:

Article

The dystrophin gene and cognitive function in the general population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 837, doi. 10.1038/ejhg.2014.183

By:

Vojinovic, Dina;
Adams, Hieab HH;
van der Lee, Sven J;
Ibrahim-Verbaas, Carla A;
Brouwer, Rutger;
van den Hout, Mirjam CGN;
Oole, Edwin;
van Rooij, Jeroen;
Uitterlinden, Andre;
Hofman, Albert;
van IJcken, Wilfred FJ;
Aartsma-Rus, Annemieke;
van Ommen, GertJan B;
Ikram, M Arfan;
van Duijn, Cornelia M;
Amin, Najaf

Publication type:

Article

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169

By:

de Brouwer, Arjan PM;
Nabuurs, Sander B;
Verhaart, Ingrid EC;
Oudakker, Astrid R;
Hordijk, Roel;
Yntema, Helger G;
Hordijk-Hos, Jannet M;
Voesenek, Krysta;
de Vries, Bert BA;
van Essen, Ton;
Chen, Wei;
Hu, Hao;
Chelly, Jamel;
den Dunnen, Johan T;
Kalscheuer, Vera M;
Aartsma-Rus, Annemieke M;
Hamel, Ben CJ;
van Bokhoven, Hans;
Kleefstra, Tjitske

Publication type:

Article

Duchenne Muscular Dystrophy (DMD): overview and pathomechanism.

Published in:

European Journal of Translational & Clinical Medicine, 2023, v. 6, p. 19

By:

Ferlini, Alessandra

Publication type:

Article

Combination Antisense Treatment for Destructive Exon Skipping of Myostatin and Open Reading Frame Rescue of Dystrophin in Neonatal mdx Mice.

Published in:

Molecular Therapy, 2015, v. 23, n. 8, p. 1341, doi. 10.1038/mt.2015.88

By:

Lu-Nguyen, Ngoc B;
Jarmin, Susan A;
Saleh, Amer F;
Popplewell, Linda;
Gait, Michael J;
Dickson, George

Publication type:

Article

Correction of Dystrophin Expression in Cells From Duchenne Muscular Dystrophy Patients Through Genomic Excision of Exon 51 by Zinc Finger Nucleases.

Published in:

Molecular Therapy, 2015, v. 23, n. 3, p. 523, doi. 10.1038/mt.2014.234

By:

Ousterout, David G;
Kabadi, Ami M;
Thakore, Pratiksha I;
Perez-Pinera, Pablo;
Brown, Matthew T;
Majoros, William H;
Reddy, Timothy E;
Gersbach, Charles A

Publication type:

Article

Microdystrophin Ameliorates Muscular Dystrophy in the Canine Model of Duchenne Muscular Dystrophy.

Published in:

Molecular Therapy, 2013, v. 21, n. 4, p. 750, doi. 10.1038/mt.2012.283

By:

Shin, Jin-Hong;
Pan, Xiufang;
Hakim, Chady H;
Yang, Hsiao T;
Yue, Yongping;
Zhang, Keqing;
Terjung, Ronald L;
Duan, Dongsheng

Publication type:

Article

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.

Published in:

Pharmaceuticals (14248247), 2015, v. 8, n. 2, p. 303, doi. 10.3390/ph8020303

By:

Akinori Nakamura

Publication type:

Article

Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1546, doi. 10.3390/ijms19061546

By:

Kawaguchi, Tatsuya;
Niba, Emma Tabe Eko;
Rani, Abdul Qawee Mahyoob;
Onishi, Yoshiyuki;
Koizumi, Makoto;
Awano, Hiroyuki;
Matsumoto, Masaaki;
Nagai, Masashi;
Yoshida, Shinobu;
Sakakibara, Sachiko;
Maeda, Naoyuki;
Sato, Osamu;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Published in:

Molecules, 2015, v. 20, n. 10, p. 18168, doi. 10.3390/molecules201018168

By:

Falzarano, Maria Sofia;
Scotton, Chiara;
Passarelli, Chiara;
Ferlini, Alessandra

Publication type:

Article

Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy.

Published in:

Experimental Physiology, 2014, v. 99, n. 4, p. 675, doi. 10.1113/expphysiol.2013.077255

By:

Church, Jarrod E.;
Trieu, Jennifer;
Chee, Annabel;
Naim, Timur;
Gehrig, Stefan M.;
Lamon, Séverine;
Angelini, Corrado;
Russell, Aaron P.;
Lynch, Gordon S.

Publication type:

Article

Properties of regenerated mouse extensor digitorum longus muscle following notexin injury.

Published in:

Experimental Physiology, 2014, v. 99, n. 4, p. 664, doi. 10.1113/expphysiol.2013.077289

By:

Head, S. I.;
Houweling, P. J.;
Chan, S.;
Chen, G.;
Hardeman, E. C.

Publication type:

Article

miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.

Published in:

Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0161-2

By:

Guilbaud, Marine;
Gentil, Christel;
Peccate, Cécile;
Gargaun, Elena;
Holtzmann, Isabelle;
Gruszczynski, Carole;
Falcone, Sestina;
Mamchaoui, Kamel;
Ben Yaou, Rabah;
Leturcq, France;
Jeanson-Leh, Laurence;
Piétri-Rouxel, France

Publication type:

Article

Adeno-associated Virus Serotype 8 (AAV8) Delivery of Recombinant A20 to Skeletal Muscle Reduces Pathological Activation of Nuclear Factor (NF)-κB in Muscle of mdx Mice.

Published in:

Molecular Medicine, 2012, v. 18, n. 12, p. 1527, doi. 10.2119/molmed.2012.00299

By:

Charan, Rakshita A.;
Niizawa, Gabriela;
Nakai, Hiroyuki;
Clemens, Paula R.

Publication type:

Article

Therapeutic potential of combined viral transduction and CRISPR/Cas9 gene editing in treating neurodegenerative diseases.

Published in:

2018

By:

Kuruvilla, Joshua;
Sasmita, Andrew Octavian;
Ling, Anna Pick Kiong

Publication type:

journal article

Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.

Published in:

2015

By:

Zamani, Gholam;
Karami, Fatemeh;
Mehdizadeh, Mahshid;
Movafagh, Abolfazl;
Nilipour, Yalda;
Zamani, Mahdi;
Zamani, Gholam Reza

Publication type:

journal article

Myofiber-specific TEAD1 overexpression drives satellite cell hyperplasia and counters pathological effects of dystrophin deficiency.

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.15461

By:

Southard, Sheryl;
Kim, Ju-Ryoung;
SiewHui Low;
Tsika, Richard W.;
Lepper, Christoph

Publication type:

Article

Muscle Structure Influences Utrophin Expression in <i>mdx</i> Mice.

Published in:

PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004431

By:

Banks, Glen B.;
Combs, Ariana C.;
Odom, Guy L.;
Bloch, Robert J.;
Chamberlain, Jeffrey S.

Publication type:

Article