Works matching DE "DYSTROPHIN genetics"

Results: 27

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
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
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
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
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
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: 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
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
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
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
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
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
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
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
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
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
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
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
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
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