Results 101 to 110 of about 64,155 (301)
Elucidation of the aberrant 3′ splice site selection by cancer-associated mutations on the U2AF1 [PDF]
, 2020 Hisashi Yoshida +7 more
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Splicing Aberrations in Congenital Myasthenic Syndromes
Journal of Investigative Genomics, 2015 The fidelity of splicing is indispensable for assuring rapidly changing cellular processes and physiological integrity of the cells. The precise biogenesis of ribo nucleoprotein complexes (RNPs) is therefore essential, which is ensured by proper complementation of RNA and RNA-binding proteins in a specific cellular context. Genetic mutations disrupting
openaire +1 more source
TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara +18 more
wiley +1 more source
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Human GenomicsBackground TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno +9 more
doaj +1 more source
Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
Frontiers in Genetics, 2019 Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2.
Lulu Li +10 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases ...
Tiziana Fioretti +5 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
TF–RBP–AS Triplet Analysis Reveals the Mechanisms of Aberrant Alternative Splicing Events in Kidney Cancer: Implications for Their Possible Clinical Use as Prognostic and Therapeutic Biomarkers [PDF]
, 2021 Meng He, Fuyan Hu
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