Results 11 to 20 of about 619,548 (333)
Journal 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.
Abelson, John +2 more
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Spliced leader trans-splicing [PDF]
Current Biology, 2006 What is spliced leader (SL) trans-splicing? It is an mRNA maturation process, similar to intron splicing, which has been shown to occur in a limited number of eukaryotes. In SL trans-splicing, the cell replaces nucleotides at the 5′ end of some pre-mRNAs with those of a special class of small nuclear RNAs, called SL RNAs. These are short molecules with
Stover, Nicholas A. +2 more
openaire +2 more sources
Cell, 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
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Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
Frontiers 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
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
Children, 2023 Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein
Iordanis Pelagiadis +9 more
doaj +1 more source
Biology, 2021 RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood.
Vita Šetrajčič Dragoš +5 more
doaj +1 more source
Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]
, 2009 Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander +2 more
core +3 more sources
Molecular Cell, 2007 A novel study in a recent issue of Molecular Cell (Shi and Manley, 2007) provides insight into a complex signaling pathway that controls the phosphorylation status of an SR-related protein that functions as a splicing repressor following heat shock-dependent dephosphorylation.
Guil, Sonia, Cáceres, Javier F.
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hnRNP A/B Proteins: An Encyclopedic Assessment of Their Roles in Homeostasis and Disease
Biology, 2021 The hnRNP A/B family of proteins is canonically central to cellular RNA metabolism, but due to their highly conserved nature, the functional differences between hnRNP A1, A2/B1, A0, and A3 are often overlooked. In this review, we explore and identify the
Patricia A. Thibault +5 more
doaj +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources