Results 11 to 20 of about 325,490 (342)

TrkB Truncated Isoform Receptors as Transducers and Determinants of BDNF Functions

open access: yesFrontiers in Neuroscience, 2022
Brain-derived neurotrophic factor (BDNF) belongs to the neurotrophin family of secreted growth factors and binds with high affinity to the TrkB tyrosine kinase receptors.
Lino Tessarollo, Sudhirkumar Yanpallewar
doaj   +1 more source

A Pause to Splice [PDF]

open access: yesMolecular Cell, 2010
Maturation of mRNA termini occurs during transcription and can be aided by pausing of RNA polymerase II (RNAPII). In this issue of Molecular Cell, two groups now demonstrate that RNAPII pausing may also assist cotranscriptional splicing in S. cerevisiae.
Andersen, Pia K, Jensen, Torben Heick
openaire   +2 more sources

Splice and Dice: Intronic microRNAs, Splicing and Cancer [PDF]

open access: yesBiomedicines, 2021
Introns span only a quarter of the human genome, yet they host around 60% of all known microRNAs. Emerging evidence indicates the adaptive advantage of microRNAs residing within introns is attributed to their complex co-regulation with transcription and alternative splicing of their host genes.
Alex C. H. Wong, John E. J. Rasko
openaire   +4 more sources

Splicing Misplaced [PDF]

open access: yesCell, 2005
Newly synthesized transcripts are usually spliced during transcription or immediately thereafter. So pre-mRNA splicing has been presumed to occur exclusively in the cell nucleus. In this issue of Cell, Denis et al. (2005) now report the presence of functional spliceosomes and signal-dependent pre-mRNA splicing in the cytoplasm of platelets.
Meshorer, Eran, Misteli, Tom
openaire   +2 more sources

tRNA Splicing [PDF]

open access: yesJournal of Biological Chemistry, 1998
Introns interrupt the continuity of many eukaryal genes, and therefore their removal by splicing is a crucial step in gene expression. Interestingly, even within Eukarya there are at least four splicing mechanisms. mRNA splicing in the nucleus takes place in two phosphotransfer reactions on a complex and dynamic machine, the spliceosome.
Abelson, John   +2 more
openaire   +3 more sources

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

open access: yesFrontiers in Genetics, 2019
A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at
Eugenia Fraile-Bethencourt   +5 more
doaj   +1 more source

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

open access: yesFrontiers in Genetics, 2018
Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling.
Eugenia Fraile-Bethencourt   +5 more
doaj   +1 more source

Blue Light-Dependent Pre-mRNA Splicing Controls Pigment Biosynthesis in the Mushroom Terana caerulea

open access: yesMicrobiology Spectrum, 2022
Light induces the production of ink-blue pentacyclic natural products, the corticin pigments, in the cobalt crust mushroom Terana caerulea. Here, we describe the genetic locus for corticin biosynthesis and provide evidence for a light-dependent dual ...
Stefanie Lawrinowitz   +6 more
doaj   +1 more source

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

open access: yesFrontiers in Genetics, 2018
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate   +11 more
doaj   +1 more source

Prescribing splicing [PDF]

open access: yesScience, 2015
A model predicts the impact of variations in the human genome on RNA splicing and disease [Also see Research Article by Xiong et al. ]
Guigó Serra, Roderic   +1 more
openaire   +4 more sources

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