Results 11 to 20 of about 51,552 (283)
Transcriptional behavior of DMD gene duplications in DMD/BMD males [PDF]
Human Mutation, 2009 DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally based on the "reading frame rule".
Francesca Gualandi +2 more
exaly +9 more sources
Pseudoexons of the DMD Gene [PDF]
Journal of Neuromuscular Diseases, 2020 The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2Mb. In the decades since DMD was discovered there have been numerous reported cases of pseudoexons (PEs) arising in the mature DMD transcripts of some individuals, either as the result of mutations or as low-frequency errors of the spliceosome.
Keegan, N.P.
openaire +4 more sources
Phenotypic features of genetically modified DMD-XKOXWT pigs
Regenerative Therapy, 2023 Introduction: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder caused by mutation in the dystrophin gene (DMD) on the X chromosome. Female DMD carriers occasionally exhibit symptoms such as muscle weakness and heart failure. Here,
Kazutoshi Okamoto +14 more
doaj +2 more sources
DMRT Transcription Factors in the Control of Nervous System Sexual Differentiation
Frontiers in Neuroanatomy, 2022 Sexual phenotypic differences in the nervous system are one of the most prevalent features across the animal kingdom. The molecular mechanisms responsible for sexual dimorphism throughout metazoan nervous systems are extremely diverse, ranging from ...
Rafael Casado-Navarro +1 more
doaj +1 more source
Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC) [PDF]
Iranian Journal of Basic Medical Sciences, 2021 Objective(s): Duchene muscular dystrophy (DMD) is a progressive neuromuscular disease caused by mutations in the DMD gene, resulting in the absence of dystrophin expression leading to membrane fragility and myofibril necrosis in the muscle cells. Because
Mahintaj Dara +5 more
doaj +1 more source
Dynamic mode decomposition of numerical data in natural circulation
Brazilian Journal of Radiation Sciences, 2021 Dynamic mode decomposition (DMD) has been used for experimental and numerical data analysis in fluid dynamics. Despite of its advantages, the application of the DMD methodology to investigate the natural circulation in nuclear reactors are very scarce in
José Luiz Horacio Faccini
doaj +1 more source
EXPLORING TRANSIENT, NEUTRONIC, REDUCED-ORDER MODELS USING DMD/POD-GALERKIN AND DATA-DRIVEN DMD [PDF]
EPJ Web of Conferences, 2021 There is growing interest in the development of transient, multiphysics models for nuclear reactors and analysis of uncertainties in those models. Reduced-order models (ROMs) provide a computationally cheaper alternative to compute uncertainties. However,
Elzohery Rabab, Roberts Jeremy
doaj +1 more source
BDJ Open, 2022 Objective To evaluate temporomandibular disorder (TMD) treatment with a prefabricated, hydrostatic oral splint (HOS) based on self-reported patient’s symptoms using a standardized questionnaire.
H. Sabbagh +5 more
doaj +1 more source
Diagnostic Accuracy on Magnetic Resonance Imaging for the Diagnosis of Osteoarthritis of the Temporomandibular Joint [PDF]
Journal of Clinical and Diagnostic Research, 2015 Objectives: Osteoarthritis, which is also called degenerative arthritis or degenerative joint disease, is primarily a disease that results from the breakdown and loss of cartilage in joints. The purpose of this study was to investigate the diagnostic
Shinya Yura +2 more
doaj +1 more source