Results 31 to 40 of about 553,332 (236)

Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

Сахарный диабет, 2019
An erratum on «A synonymous variant in GCK gene as a cause of gestational diabetes mellitus» by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov, Anatoly N. Tiulpakov (2019)
Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov   +7 more
doaj   +1 more source

The SC-35 Splicing Factor Interacts with RNA Pol II and A-Type Lamin Depletion Weakens This Interaction

Cells, 2021
The essential components of splicing are the splicing factors accumulated in nuclear speckles; thus, we studied how DNA damaging agents and A-type lamin depletion affect the properties of these regions, positive on the SC-35 protein.
Soňa Legartová, Paolo Fagherazzi, Lenka Stixová, Aleš Kovařík, Ivan Raška, Eva Bártová   +5 more
doaj   +1 more source

RNA-Seq analysis of splicing in Plasmodium falciparum uncovers new splice junctions, alternative splicing and splicing of antisense transcripts. [PDF]

, 2011
Over 50% of genes in Plasmodium falciparum, the deadliest human malaria parasite, contain predicted introns, yet experimental characterization of splicing in this organism remains incomplete.
DeRisi, Joseph L, Dimon, Michelle T, Sorber, Katherine   +2 more
core   +3 more sources

A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells

Cells, 2021
Age-related macular degeneration (AMD) is a blinding disease for which most of the patients remain untreatable. Since the disease affects the macula at the center of the retina, a structure specific to the primate lineage, rodent models to study the ...
Laurence Klipfel, Marie Cordonnier, Léa Thiébault, Emmanuelle Clérin, Frédéric Blond, Géraldine Millet-Puel, Saddek Mohand-Saïd, Olivier Goureau, José-Alain Sahel, Emeline F. Nandrot, Thierry Léveillard   +10 more
doaj   +1 more source

Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]

, 2015
Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P, Dykstra-Aiello, Cheryl, Ho, Carolyn, Hull, Heather, Jickling, Glen C, Liu, DaZhi, Orantia, Miles, Stamova, Boryana, Zhan, Xinhua   +8 more
core   +2 more sources

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons [PDF]

, 2014
Alternative splicing—the production of multiple messenger RNA isoforms from a single gene—is regulated in part by RNA binding proteins. While the RBPs transformer2 alpha (Tra2α) and Tra2β have both been implicated in the regulation of alternative ...
Austin, Caroline A., Best, Andrew, Chabot, Benoit, Cheong Lee, Ka, Cowell, Ian G., Curk, Tomaz, Dalgliesh, Caroline, Danilenko, Marina, Elliott, David J., Hong, Elaine, Hussain, Rafiq, James, Katherine, Keavney, Bernard, Kheirolahi-Kouhestani, Mahsa, Klinck, Roscoe, Santibanez Koref, Mauro, Tyson-Capper, Alison, Venables, Julian P., Wipat, Anil, Xu, Yaobo   +19 more
core   +2 more sources

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

FOXP3 interacts with hnRNPF to modulate pre-mRNA alternative splicing [PDF]

, 2018
FOXP3 promotes the development and function of regulatory T cells mainly through regulating the transcription of target genes. RNA alternative splicing has been implicated in a wide range of physiological and pathophysiological processes.
Du, Jianguang, Wang, Qun, Zhou, Baohua, Ziegler, Steven F.   +3 more
core   +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