Results 131 to 140 of about 56,717 (273)

Duchenne muscular dystrophy treatment with lentiviral vector containing mini‐dystrophin gene in vivo

MedComm
Duchenne muscular dystrophy (DMD) is an incurable X‐linked recessive genetic disease caused by mutations in the dystrophin gene. Many researchers aim to restore truncated dystrophin via viral vectors.
Xiaoyu Wang, Yanghui Zhu, Taiqing Liu, Lingyan Zhou, Yunhai Fu, Jinhua Zhao, Yinqi Li, Yeteng Zheng, Xiaodong Yang, Xiangjie Di, Yang Yang, Zhiyao He   +11 more
doaj   +1 more source

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

Journal of Translational Medicine, 2009
The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of ...
Gollop Thomaz R, Zucconi Eder, Vieira Natássia M, Secco Mariane, Jazedje Tatiana, Vainzof Mariz, Zatz Mayana   +6 more
doaj   +1 more source

Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy [PDF]

Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that ...
Aartsma-Rus, Ali, Andersen, Bages, Bello, Bish, Breitbart, Brinkmeyer-Langford, Burton, Bustin, Bustin, Camerino, Cohn, Cotten, Craig, Crist, Duan, Falzarano, Feder, Fjeldbo, Flanigan, Galindo, Gong, Hildyard, Kallestad, Kornegay, Kornegay, Li, Liu, Mah, McGreevy, Nghiem, Pegoraro, Pfaffl, Piva, Reinig, Rho, Robinson-Hamm, Robriquet, Schmittgen, Solano, Spassov, Swaggart, Thellin, Vieira, Vieira Natassia, Walmsley, Webster, Wuebbles, Yu, Zammit   +50 more
core   +1 more source

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +3 more sources

Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy is a fatal muscle disease, caused by mutations in DMD, leading to loss of dystrophin expression. Phosphorodiamidate morpholino splice-switching oligonucleotides (PMO-SSOs) have been used to elicit the restoration of a ...
Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A. Partridge, James S. Novak, Sebahattin Cirak   +6 more
doaj   +1 more source

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene [PDF]

, 1994
We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/ Becker (DMD/BMD) muscular dystrophy.
Blonden, Lau, Cremer, Marion, Cremer, Thomas, Kilian, Karin, Ried, Thomas, Schröck, Evelin, Tocharoentanaphol, Chintana   +6 more
core   +1 more source

The atomic structure of human dystrophin spectrin‐like repeat 24

Acta Crystallographica Section F, Volume 82, Issue 5, Page 184-193, May 2026.
The atomic structure of human dystrophin spectrin‐like repeat 24 was determined at 2.14 Å resolution.The structure of spectrin‐like repeat 24 of human dystrophin was determined at 2.5 Å effective resolution. The structure exhibits a three‐helix bundle fold, common to all spectrin‐repeat family members, and shares a high degree of homology with existing
Oakley Streeter, Ke Shi, Hannah Bui, Hideki Aihara, James M. Ervasti, Robert Evans III, Joseph M. Muretta   +6 more
wiley   +1 more source

The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient‐as‐Own‐Control Designs

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT A frequently cited concern regarding patient‐as‐own‐control trial designs in rare disease is the potential for placebo and related effects to inflate apparent treatment efficacy. Whether this concern is disqualifying or manageable has not been systematically evaluated.
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9

Stem Cell Reports, 2014
Summary Duchenne muscular dystrophy (DMD) is a severe muscle-degenerative disease caused by a mutation in the dystrophin gene. Genetic correction of patient-derived induced pluripotent stem cells (iPSCs) by TALENs or CRISPR-Cas9 holds promise for DMD ...
Hongmei Li, Naoko Fujimoto, Noriko Sasakawa, Saya Shirai, Tokiko Ohkame, Tetsushi Sakuma, Michihiro Tanaka, Naoki Amano, Akira Watanabe, H. Sakurai, Takashi Yamamoto, S. Yamanaka, A. Hotta   +12 more
semanticscholar   +1 more source

Biglycan : a multivalent proteoglycan providing structure and signals [PDF]

, 2013
Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana, Schäfer, Liliana, Young, Marian F.   +2 more
core