Results 101 to 110 of about 9,766,746 (345)

AAV-based gene therapies for the muscular dystrophies.

Human Molecular Genetics, 2019
Muscular dystrophy is a group of progressive genetic diseases affecting the musculature which are characterized by inflammatory infiltrates, necrosis and connective tissue and fat replacement of the affected muscles.
J. Crudele, J. Chamberlain
semanticscholar   +1 more source

Current trends in single‐cell RNA sequencing applications in diabetes mellitus

FEBS Open Bio, EarlyView.
Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian, Khodakaram Jahanbin, Shekoofeh Nikooei, Marzieh Rostaminejad, Arezoo Rahimi, Pedram Abdizadeh, Behnam Alipoor   +6 more
wiley   +1 more source

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

A History of Dystonia: Ancient to Modern [PDF]

, 2017
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to ...
Deborah Thorpe, Jane Alty, Peter Kempster, Rachel Newby   +3 more
core   +1 more source

Ro 31‐8220 suppresses bladder cancer progression via enhancing autophagy in vitro and in vivo

FEBS Open Bio, EarlyView.
The pan‐protein kinase C inhibitor Ro‐31‐8220 demonstrates potent anti‐bladder cancer effects both in vitro and in vivo by suppressing migration/invasion, inducing apoptosis and crucially activating autophagy, where blocking autophagy with chloroquine reduces its cell‐killing efficacy, suggesting its promise as a novel therapeutic candidate requiring ...
Shengjun Fu, Yan Tao, Shan Wu, Yuwen Gong, Youli Zhao, Shaomin Niu, Hui Cheng, You Mu, Na Xu, Ying Wang, Jianzhong Lu, Shanhui Liu, Lanlan Li   +12 more
wiley   +1 more source

Downregulation of sST2, a decoy receptor for interleukin‐33, enhances subcutaneous tumor growth in murine pancreatic cancer cells

FEBS Open Bio, EarlyView.
Subcutaneous implantation of murine Panc02 pancreatic cancer cells depleted of sST2, a soluble decoy receptor for the proinflammatory interleukin‐33 (IL‐33), leads to a decreased number of GLUT4‐positive cancer‐associated adipocytes, reduced levels of the anti‐inflammatory molecule adiponectin, increased phosphorylation of IκBα, elevated Cxcl3 ...
Miho Akimoto, Nobuko Koshikawa, Takao Morinaga, Mimi Tamamori‐Adachi, Atsushi Takatori, Keizo Takenaga   +5 more
wiley   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Transcriptional regulation of neuropeptide receptors underlies context‐dependent adaptation in Drosophila melanogaster

FEBS Open Bio, EarlyView.
Under environmental changes, the expression level of neuropeptide (NP) and neuropeptide receptor (NPR) genes changes to confer context‐dependent adaptation to the model organism Drosophila melanogaster. Through finding more regulatory elements in the NPR genes in comparison with their ligands (NPs), we found that NPR‐biased transcriptional regulation ...
SeungHeui Ryu, Yanan Wei, Zekun Wu, Tianmu Zhang, DoHoon Lee, Hadi Najafi, Woo Jae Kim   +6 more
wiley   +1 more source

Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals

Orphanet Journal of Rare Diseases
Background Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evaluating products for Duchenne.
Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges, Niki Armstrong   +11 more
doaj   +1 more source

Correction to: Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2019
The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests:
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source