Results 21 to 30 of about 396,812 (264)

Hypoxia-induced alternative splicing in endothelial cells [PDF]

, 2012
Background: Adaptation to low oxygen by changing gene expression is vitally important for cell survival and tissue development. The sprouting of new blood vessels, initiated from endothelial cells, restores the oxygen supply of ischemic tissues.
Weigand, Julia E., Julia E. Weigand (17017), Julia E Weigand, Pascal Gellert, Stefanie Dimmeler, Dimmeler, Stefanie, Jes-Niels Boeckel (145707), Pascal Gellert (145710), Gellert, Pascal, Jes-Niels Boeckel, Stefanie Dimmeler (134234), Boeckel, Jes-Niels   +11 more
core   +2 more sources

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

Frontiers 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, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada   +11 more
doaj   +1 more source

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, Aravindhan Ganesan, Subha Kalyaanamoorthy, Joseph-Patrick W. E. Clarke, Hannah E. Salapa, Michael C. Levin   +5 more
doaj   +1 more source

In Vitro Comparison of Sex-Specific Splicing Efficiencies of fem Pre-mRNA under Monoallelic and Heteroallelic Conditions of csd, a Master Sex-Determining Gene in the Honeybee

Journal of Developmental Biology, 2023
The sexual fate of honeybees is determined by the complementary sex determination (CSD) model: heterozygosity at a single locus (the CSD locus) determines femaleness, while hemizygosity or homozygosity at the CSD locus determines maleness.
Yukihiro Suzuki, Takafumi Yamada, Masataka G. Suzuki   +2 more
doaj   +1 more source

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]

, 2010
Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Chindo Hicks, Vorechovsky, Igor, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process

Diagnostics, 2022
Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS.
Nathalie Douet-Guilbert, Benoît Soubise, Delphine G. Bernard, Marie-Bérengère Troadec   +3 more
doaj   +1 more source

A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]

, 2008
With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core   +1 more source

Splicing-associated epitopes and immune therapy response.

, 2021
(A) Distribution of the number of tumor-specific splicing-derived neoepitopes (splicing-epitopes) and splicing-affected self-epitopes that would be depleted in the altered isoform (self-epitopes) using ≤500nM to define candidate epitopes, separated by ...
Judith Pérez-Granado (11442479), Juan L. Trincado (11442473), Ferran Sanz (89706), Marina Reixachs-Solé (11442476), Tim Fugmann (11442482), Eduardo Eyras (3024), Jun Yokota (133873)   +6 more
core   +1 more source

A splicing-dependent transcriptional checkpoint associated with prespliceosome formation [PDF]

, 2014
There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Chathoth, Keerthi T, Webb, Shaun, Barrass, J David, Beggs, Jean D   +3 more
core   +1 more source

Identifying differential exon splicing using linear models and correlation coefficients [PDF]

, 2009
Background: With the availability of the Affymetrix exon arrays a number of tools have been developed to enable the analysis. These however can be expensive or have several pre-installation requirements.
Pallas Jacqueline A, Shah, SH, Shah Sonia H, Sonia H Shah, Jacqueline A Pallas, Shah, Sonia H., Pallas, JA, Pallas, Jacqueline A.   +7 more
core   +1 more source