Results 121 to 130 of about 154,659 (331)
Quantitative single-cell splicing analysis reveals an ‘economy of scale’ filter for gene expression [PDF]
, 2018 In eukaryotic cells, splicing affects the fate of each pre-mRNA transcript, helping to determine whether it is ultimately processed into an mRNA, or degraded. The efficiency of splicing plays a key role in gene expression.
Ding, Fangyuan, Elowitz, Michael B.
core
Identification of novel alternative splicing biomarkers for breast cancer with LC/MS/MS and RNA-Seq
BMC Bioinformatics, 2020 Background Alternative splicing isoforms have been reported as a new and robust class of diagnostic biomarkers. Over 95% of human genes are estimated to be alternatively spliced as a powerful means of producing functionally diverse proteins from a single
Fan Zhang +5 more
doaj +1 more source
Transcription rate strongly affects splicing fidelity and cotranscriptionality in budding yeast [PDF]
, 2018 The functional consequences of alternative splicing on altering the transcription rate have been the subject of intensive study in mammalian cells but less is known about effects of splicing on changing the transcription rate in yeast. We present several
Aslanzadeh V +3 more
core +2 more sources
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Splicing and the formation of stable RNA
Cell, 1979 To determine whether RNA splicing plays an obligatory role in gene expression, we have constructed a series of SV40-transducing viruses carrying various combinations of splice junctions derived from the viral genome and a mouse globin gene. All of the viruses that retain at least one functional splice junction, derived from either the viral or the ...
Dean H. Hamer, Philip Leder
openaire +3 more sources
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
CTCF Degradation Causes Increased Usage of Upstream Exons in Mouse Embryonic Stem Cells [PDF]
arXiv, 2018 Transcriptional repressor CTCF is an important regulator of chromatin 3D structure, facilitating the formation of topologically associating domains (TADs). However, its direct effects on gene regulation is less well understood. Here, we utilize previously published ChIP-seq and RNA-seq data to investigate the effects of CTCF on alternative splicing of ...
arxiv
Regulation of splicing networks in neurodevelopment [PDF]
, 2018 Alternative splicing of pre-mRNA is a critical mechanism for enabling genetic diversity, and is a carefully regulated process in neuronal differentiation. RNA binding proteins (RBPs) are developmentally expressed and physically interact with RNA to drive
Weyn-Vanhentenryck, Sabastien Matthieu
core +2 more sources
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi +7 more
wiley +1 more source
RNA structure in alternative splicing regulation: from mechanism to therapy
Acta Biochimica et Biophysica SinicaAlternative splicing is a highly intricate process that plays a crucial role in post-transcriptional regulation and significantly expands the functional proteome of a limited number of coding genes in eukaryotes ...
Bao Nengcheng +4 more
doaj +1 more source