Results 51 to 60 of about 553,332 (236)
IEEE Photonics Journal, 2018 Linearly polarized (LP) modes in few-mode fibers are not true eigenmodes but approximated modes constituting of linear combinations of true eigenmodes.
Seiya Miura +2 more
doaj +1 more source
Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types [PDF]
, 2018 Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer.
Alvaro, Domenico +12 more
core +1 more source
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
wiley +1 more source
The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]
, 2018 Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan +4 more
core +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 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
Molecular Therapy: Nucleic AcidsPancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez +14 more
doaj +1 more source
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
Molecular Genetics & Genomic Medicine, 2022 Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia.
Bianca R. Grosz +13 more
doaj +1 more source
Evolution of NCoR-1 and NCoR-2 corepressor alternative mRNA splicing in placental mammals. [PDF]
, 2019 ObjectiveThe NCoR-1 and NCoR-2 corepressors are products of an early gene duplication near the beginning of vertebrate evolution and play both overlapping and divergent roles in development and physiology.
Goodson, Michael L, Privalsky, Martin L
core
evolution, structure and function of metazoan splicing factor PRPF39 [PDF]
, 2019 In the yeast U1 snRNP the Prp39/Prp42 heterodimer is essential for early steps of spliceosome assembly. In metazoans no Prp42 ortholog exists, raising the question how the heterodimer is functionally substituted.
Bortoli, Francesca De +7 more
core +1 more source