Results 81 to 90 of about 9,766,746 (345)
Advances in quantitative MRI of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin +4 more
doaj +1 more source
Different outcome of sarcoglycan missense mutation between human and mouse [PDF]
, 2018 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Bourg, Nathalie +6 more
core +4 more sources
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Journal of Neuromuscular Diseases, 2018 Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
J. Glascock +14 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser +11 more
wiley +1 more source
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Orphanet Journal of Rare DiseasesBackground Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari +2 more
doaj +1 more source
Coordinated actions of microRNAs with other epigenetic factors regulate skeletal muscle development and adaptation [PDF]
, 2017 Epigenetics plays a pivotal role in regulating gene expression in development, in response to cellular stress or in disease states, in virtually all cell types.
Adamo, Sergio +3 more
core +1 more source
Antisense Oligonucleotide Therapies for Neurodegenerative Diseases.
Annual Review of Neuroscience, 2019 Antisense oligonucleotides represent a novel therapeutic platform for the discovery of medicines that have the potential to treat most neurodegenerative diseases.
C. Bennett, A. Krainer, D. Cleveland
semanticscholar +1 more source
Molecular Oncology, EarlyView.Trastuzumab‐deruxtecan, a HER2‐targeting antibody‐drug conjugate, shows promising antitumor activity in head and neck squamous cell carcinoma with low HER2 expression. In vitro and in vivo studies demonstrated dose‐dependent cell death and tumor growth reduction in low HER2‐expressing cell lines, which correlated with drug accumulation measured using a
Abdullah Bin Naveed +8 more
wiley +1 more source
Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma
Molecular Oncology, EarlyView.GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski +19 more
wiley +1 more source
Emerging role of ARHGAP29 in melanoma cell phenotype switching
Molecular Oncology, EarlyView.This study gives first insights into the role of ARHGAP29 in malignant melanoma. ARHGAP29 was revealed to be connected to tumor cell plasticity, promoting a mesenchymal‐like, invasive phenotype and driving tumor progression. Further, it modulates cell spreading by influencing RhoA/ROCK signaling and affects SMAD2 activity. Rho GTPase‐activating protein
Beatrice Charlotte Tröster +3 more
wiley +1 more source