Results 111 to 120 of about 59,671 (341)
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Integrative effects of dystrophin loss on metabolic function of the mdx mouse
Scientific Reports, 2018 Duchenne muscular dystrophy (DMD) is a disease marked by the development of skeletal muscle weakness and wasting. DMD results from mutations in the gene for the cytoskeletal protein dystrophin.
J. Straková +7 more
semanticscholar +1 more source
Protein Target Highlights in CASP16: Insights From the Structure Providers
Proteins: Structure, Function, and Bioinformatics, EarlyView.ABSTRACT This article presents an in‐depth analysis of selected CASP16 targets, with a focus on their biological and functional significance. The authors highlight the most relevant features of the target proteins and discuss how well these were reproduced in the submitted predictions.
Leila T. Alexander +34 more
wiley +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.Abstract Quantitative model‐based clinical trial simulation tools play a critical role in informing study designs through simulation before actual execution. These tools help drug developers explore various trial scenarios in silico to select a clinical trial design to detect therapeutic effects more efficiently, therefore reducing time, expense, and ...
Jongjin Kim +10 more
wiley +1 more source
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]
, 2013 IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted +12 more
core +2 more sources
Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin
Journal of Functional Morphology and Kinesiology, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in ...
Laura Forcina +3 more
doaj +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk +18 more
wiley +1 more source
Dystrophin Is a Tumor Suppressor in Human Cancers with Myogenic Programs [PDF]
, 2015 Many common human mesenchymal tumors, including gastrointestinal stromal tumor (GIST), rhabdomyosarcoma (RMS), and leiomyosarcoma (LMS), feature myogenic differentiation1–3.
Antonescu, Cristina R. +19 more
core +1 more source
PLoS ONE, 2014 Duchenne muscular dystrophy (DMD) is characterized by the absence or reduced levels of dystrophin expression on the inner surface of the sarcolemmal membrane of muscle fibers.
Chantal Beekman +8 more
doaj +1 more source
State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna +4 more
wiley +1 more source