Results 41 to 50 of about 396,812 (264)

N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3′ Splice Site Function in Vivo

G3: Genes, Genomes, Genetics, 2016
Metazoan introns contain a polypyrimidine tract immediately upstream of the AG dinucleotide that defines the 3′ splice site. In the nematode Caenorhabditis elegans, 3′ splice sites are characterized by a highly conserved UUUUCAG/R octamer motif.
Omar A. Itani, Stephane Flibotte, Kathleen J. Dumas, Chunfang Guo, Thomas Blumenthal, Patrick J. Hu   +5 more
doaj   +1 more source

miRNA Enriched in Human Neuroblast Nuclei Bind the MAZ Transcription Factor and Their Precursors Contain the MAZ Consensus Motif

Frontiers in Molecular Neuroscience, 2017
While the cytoplasmic function of microRNA (miRNA) as post-transcriptional regulators of mRNA has been the subject of significant research effort, their activity in the nucleus is less well characterized.
Belinda J. Goldie, Belinda J. Goldie, Belinda J. Goldie, Chantel Fitzsimmons, Chantel Fitzsimmons, Judith Weidenhofer, Joshua R. Atkins, Joshua R. Atkins, Dan O. Wang, Dan O. Wang, Murray J. Cairns, Murray J. Cairns   +11 more
doaj   +1 more source

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Unraveling the Molecular Mechanism of Splicing through Molecular Dynamics Simulation [PDF]

, 2021
The genes architecture as made of intron and exons is now a widely accepted fact and a well-established hypothesis. Indeed, the exons regions of a DNA molecule that code for proteins are not a continuous unitary sequence, but silent intervening segments (
Saltalamacchia, Andrea
core  

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

FEBS Letters, EarlyView.
CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens, Brendan W. Chandler, Anna M. Schmoker, Jaye L. Weinert, Charlotte A. Kearns, Warren T. Yacawych, Amila Šemić, Alicia M. Ebert, Bryan A. Ballif   +8 more
wiley   +1 more source

PPP3CB overexpression mediates EGFR TKI resistance in lung tumors via calcineurin/MEK/ERK signaling

Life Science Alliance
A triple osimertinib/calcineurin A/trametinib combination of treatment overcomes acquired resistance to EGFR TKI in EGFR-mutant lung adenocarcinoma cells that overexpress PPP3CB.
Sylvie Gazzeri, Nadiia Zubchuk, Elodie Montaudon, Fariba Nemati, Sarah Huot-Marchand, Giulia Berardi, Amelie Pucciarelli, Yassir Dib, Dylan Nerini, Christiane Oddou, Mylène Pezet, Laurence David-Boudet, Camille Ardin, Florence de Fraipont, Antonio Maraver, Nicolas Girard, Didier Decaudin, Anne-Claire Toffart, Beatrice Eymin   +18 more
doaj   +1 more source

Modeling Myeloid Malignancies Using Zebrafish

Frontiers in Oncology, 2017
Human myeloid malignancies represent a substantial disease burden to individuals, with significant morbidity and death. The genetic underpinnings of disease formation and progression remain incompletely understood.
Kathryn S. Potts, Kathryn S. Potts, Teresa V. Bowman, Teresa V. Bowman, Teresa V. Bowman   +4 more
doaj   +1 more source

Functional coordination of alternative splicing in the mammalian central nervous system [PDF]

, 2007
BACKGROUND: Alternative splicing (AS) functions to expand proteomic complexity and plays numerous important roles in gene regulation. However, the extent to which AS coordinates functions in a cell and tissue type specific manner is not known.
Saltzman, A.L., Rozenhek, A., Christine Misquitta, Ofer Shai, Frey, B.J., Blencowe, B.J., Babak, T., Aviad Rozenhek, Misquitta, C., Mohammad, N., Zhang, W., Brendan J Frey, Lee, L., Arneet L Saltzman, Timothy R Hughes, Willaime-Morawek, S., Qun Pan, Leo Lee, Derek van der Kooy, Barash, Y., Wen Zhang, Yoseph Barash, Joanna Y Ip, Benjamin J Blencowe, Pan, Q., Matthew Fagnani, Sandrine Willaime-Morawek, van der Kooy, D., Naveed Mohammad, Fagnani, M., Shai, O., Hughes, T.R., Tomas Babak   +32 more
core   +1 more source

Splicing-derived epitopes and splicing-affected self-epitopes in SCLC patients.

, 2021
(A) Upper panel: Number of intron retentions per SCLC sample that impact the open reading frame. Lower panel: Number of candidate MHC-I binders per sample that are created (blue), i.e., splicing-derived neoepitopes, or potentially removed from the ORF 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