Results 81 to 90 of about 258,637 (293)
FEBS Open Bio, EarlyView.Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta +7 more
wiley +1 more source
Splicing-associated epitopes identified using ≤300nM.
, 2021 (A) Distribution of the number of candidate tumor-specific splicing-derived neoepitopes (splicing-epitopes) and splicing-affected self-epitopes that would be depleted in the altered isoform (self-epitopes) using ≤300nM to define candidate epitopes.
Judith Pérez-Granado (11442479) +6 more
core +1 more source
FEBS Open Bio, EarlyView.The neurokinin 1 receptor exists as full‐length (NK1L) and C‐terminally truncated (NK1S) splice variants. We show that NK1S heterodimerizes with NK1L, impairing Gαq coupling and Ca2+ mobilization while enhancing β‐arrestin1 recruitment. NK1S suppresses substance P‐driven gene expression and cell migration, revealing NK1S as an endogenous biased ...
Lan Phuong Nguyen +8 more
wiley +1 more source
Frontiers in OncologyAlternative splicing is a key mechanism responsible for protein diversity in eukaryotes. Even when the relevance of this process was initially overlooked, it is now clear that splicing decisions have a strong impact on the physiology of organisms ...
Nancy Martínez-Montiel +3 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Analysis of aberrant splicing rates in DNA and RNA reads by error length.
, 2019 To detect possible reading frame preservation bias in aberrant splicing events, an analysis of splicing aberrant splicing rates in DNA and RNA by insertion or deletion length in wild-type reads was performed.
Derrick J. Reynolds (2811250) +1 more
core +1 more source
Neuronal cell type-specific alternative splicing is regulated by the KH domain protein SLM1 [PDF]
, 2014 The unique functional properties and molecular identity of neuronal cell populations rely on cell type-specific gene expression programs. Alternative splicing represents a powerful mechanism for expanding the capacity of genomes to generate molecular ...
Yoko Iijima +7 more
core +1 more source
, 2022 Additional file 6: Figure S5. Mutant SF3B1 caused aberrant splicing of DLG1 in 293 T and GH3 cells, and altered DLG1 expression in MMQ cells. (A) Schematic representation of the validated aberrant splicing of DLG1 gene fragments by PCR.
Jing Guo (102972) +7 more
core +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
TISSUE-SPECIFICITY AND REGULATION OF ABERRANT ALTERNATIVE SPLICING
, 2022 Supplementary tables related to the PhD thesis of Aleksei Mironov.
openaire +5 more sources