Results 111 to 120 of about 55,853 (286)

Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophy

open access: yesDisease Models & Mechanisms, 2014
In the translational process of developing innovative therapies for DMD (Duchenne muscular dystrophy), the last preclinical validation step is often carried out in the most relevant animal model of this human disease, namely the GRMD (Golden Retriever ...
Inès Barthélémy   +10 more
doaj   +1 more source

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

open access: yes, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Hoen, PAC't   +3 more
core  

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]

open access: yes, 2016
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F   +9 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

open access: yesPediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil   +2 more
wiley   +1 more source

Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2

open access: yesResearch Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova   +8 more
doaj   +1 more source

p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy

open access: yesDisease Models & Mechanisms, 2017
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when ...
Darko Bosnakovski   +7 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling   +6 more
wiley   +1 more source

Robert Zeller, MD (1938–2025)

open access: yes
Annals of the Child Neurology Society, EarlyView.
Gary D. Clark, Phillip L. Pearl
wiley   +1 more source

6‐Shogaol Attenuates Doxorubicin‐Induced Cardiac and Skeletal Muscle Atrophy by Inhibiting E3 Ubiquitin Ligases and Necroptosis

open access: yesPhytotherapy Research, EarlyView.
Doxorubicin induces cardiac and skeletal muscle atrophy by upregulating E3 ubiquitin ligases, inhibiting myogenic regulatory factors, and activating necroptosis. Cardiac atrophy can further exacerbate cardiotoxicity. 6‐Shogaol negatively regulates these processes and attenuates doxorubicin‐induced cardiac and skeletal muscle atrophy.
Xipeng Sun   +5 more
wiley   +1 more source

Whole-body clearing, staining and screening of calcium deposits in the mdx mouse model of Duchenne muscular dystrophy

open access: yesSkeletal Muscle, 2018
Background Duchenne muscular dystrophy (DMD) is a fatal, X-linked genetic disorder. Although DMD is the most common form of muscular dystrophy, only two FDA-approved drugs were developed to delay its progression. In order to assess therapies for treating
Lukasz Bozycki   +3 more
doaj   +1 more source

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