Results 51 to 60 of about 42,113 (251)

Duchenne muscular dystrophy [PDF]

Biochemical Society Transactions, 1984
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
openaire   +6 more sources

Facial Mimicry of Spontaneous and Deliberate Duchenne and Non-Duchenne Smiles [PDF]

Journal of Nonverbal Behavior, 2013
Increasing evidence suggests that Duchenne (D) smiles may not only occur as a sign of spontaneous enjoyment, but can also be deliberately posed. The aim of this paper was to investigate whether people mimic spontaneous and deliberate D and non-D smiles to a similar extent.
Krumhuber, EG, Likowski, KU, Weyers, P
openaire   +3 more sources

Gel Electrophoretic Detection of Black Market ACE‐031

Drug Testing and Analysis, EarlyView.
This article presents a study on black market ACE‐031 products and their detection by gel‐electrophoresis and Western blotting. Of the 14 tested products, only 12 contained an ACVR2B‐immunoreactive protein. However, mass spectrometry revealed that the products did not contain the ACVR2B‐Fc fusion protein ACE‐031 but instead the full‐length human ...
Christian Reichel, Thomas Filip, Günter Gmeiner, Mario Thevis   +3 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Prednisone in Duchenne dystrophy

Neuromuscular Disorders, 1991
The results of a randomized controlled trial of daily Prednisone conducted in 99 boys aged five to 15 years with Duchenne dystrophy are reported from the Department of Neurology, University of Rochester, NY and five collaborating institutions.
openaire   +7 more sources

Development of a Clinical Global Impression of Change (CGI-C) and a Caregiver Global Impression of Change (CaGI-C) measure for ambulant individuals with Duchenne muscular dystrophy

Health and Quality of Life Outcomes, 2021
Background In clinical trials for rare diseases, such as Duchenne muscular dystrophy, clinical outcome assessments (COA) used to assess treatment benefit are often generic and may not be sensitive enough to detect change in specific patient populations ...
Hannah Staunton, Claire Trennery, Rob Arbuckle, Maitea Guridi, Elena Zhuravleva, Pat Furlong, Ryan Fischer, Rebecca Hall   +7 more
doaj   +1 more source

Exploring the Potential and Advancements of Circular RNA Therapeutics

Exploration, EarlyView.
Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang, Lianqing Wang, Chunbo Dong, Jialong Liu, Guoxin Cui, Shan Gao, Zhida Liu   +6 more
wiley   +1 more source

Evolution of therapeutic management of patients with ANCA associated vasculitis in France after licensing Rituximab use

BMC Rheumatology
Introduction In 2013, rituximab was approved in France for the treatment of ANCA-associated vasculitis (AAV). The aim of the study was to compare the treatment and health events of adult incident patients with granulomatosis with polyangiitis (GPA) and ...
Cécile-Audrey Durel, Eric Simon Thervet, Dominique Chauveau, Aurélie Schmidt, Benjamin Terrier, Pierre M Bataille   +5 more
doaj   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source