Results 111 to 120 of about 49,802 (297)
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, EarlyView.Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias +23 more
wiley +1 more source
Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF. [PDF]
, 1993 Akila Mayeda +2 more
openalex +3 more sources
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Targeting Cryptochromes in Chronic Diseases
Cell Biology International, EarlyView.ABSTRACT The circadian clock generates 24‐h molecular rhythms through transcription–translation negative feedback loops (TTFLs) and regulates daily physiological processes such as sleep–wake cycles, body temperature, hormone secretion, metabolism, and immune function.
Takuro Toda, Tsuyoshi Hirota
wiley +1 more source
Deleterious c-Cbl Exon Skipping Contributes to Human Glioma
Neoplasia: An International Journal for Oncology Research, 2015 c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong +10 more
doaj +1 more source
How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse [PDF]
, 2015 Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to ...
Betts, C +13 more
core +2 more sources
Clinical Pharmacology &Therapeutics, EarlyView.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
The contribution of Alu exons to the human proteome. [PDF]
, 2016 BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng +7 more
core +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 +8 more
wiley +1 more source
CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion
Genome Biology, 2017 CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou +16 more
doaj +1 more source