Results 41 to 50 of about 240,839 (324)
Journal of Hematology & Oncology, 2021 Background Both aberrant alternative splicing and m6A methylation play complicated roles in the development of pancreatic cancer (PC), while the relationship between these two RNA modifications remains unclear.
Shi Chen +13 more
semanticscholar +1 more source
Frontiers in Oncology, 2021 BackgroundLung cancer is a major health concern worldwide because of its increasing incidence and mortality. This study aimed to clarify the association between mesenchymal-epithelial transition (MET) genomic alterations and clinical characteristics of ...
Yaolin Song +10 more
doaj +1 more source
Cell, 2016 Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
Courtney S. Young, April D. Pyle
openaire +3 more sources
Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022 Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento +16 more
wiley +1 more source
Expert Consensus on Targeted Therapy of NSCLC with MET Exon 14 Skipping Mutation
Chinese Journal of Lung Cancer, 2023 The mesenchymal-epithelial transition factor (MET) exon 14 skipping mutation is mainly caused by the loss of c-Cbl tyrosine binding site. This mutation could result in a decrease in the degradation rate of proteasome-mediated MET proteins, trigger ...
Lung Cancer Specialty Committee of Chinese Elderly Health Care Association
doaj +1 more source
Journal of Personalized Medicine, 2021 Dystrophinopathies are caused by mutations in the DMD gene. Out-of-frame deletions represent most mutational events in severe Duchenne muscular dystrophy (DMD), while in-frame deletions typically lead to milder Becker muscular dystrophy (BMD).
S. Anwar +4 more
semanticscholar +1 more source
Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022 Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen +49 more
wiley +1 more source
BMC Biotechnology, 2018 Background The CRISPR/Cas9 system has been widely used to generate gene knockout/knockin models by inducing frameshift mutants in cell lines and organisms.
Dafeng Chen +5 more
doaj +1 more source
Exon Skipping Is Correlated with Exon Circularization
Journal of Molecular Biology, 2015 Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Peter R. Cook +4 more
openaire +5 more sources
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022 Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye +31 more
wiley +1 more source