Results 51 to 60 of about 1,384,640 (333)

RNA splicing: disease and therapy [PDF]

Briefings in Functional Genomics, 2011
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins.
Douglas, Andrew G.L., Wood, Matthew J.A.
openaire   +4 more sources

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

The Application of Clinical Genetics, 2021
Erica Aristizábal,1 Lorena Diaz-Ordóñez,1 Estephania Candelo,1,2 Harry Pachajoa1,2 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia ...
Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H   +3 more
doaj  

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira, Anna Skwarska, Karolina Chwialkowska, Agnieszka Ostrowska, Gabriela Sokolowska, Anna Zeller, Anna Erol, Andrzej Eljaszewicz, Bartosz Hanczaruk, Anna Michalska‐Falkowska, Agnieszka Tarasik, Joanna Reszec‐Gielazyn, Pawel Knapp, Marcin Moniuszko, Adam Kretowski   +14 more
wiley   +1 more source

RNA. Prescribing splicing.

Science (New York, N.Y.), 2015
Prescribing ...
Guigó Serra, Roderic, Valcárcel, J. (Juan)   +1 more
openaire   +3 more sources

Catalytic RNA and RNA Splicing [PDF]

American Zoologist, 1989
The capacity of Watson-Crick base-pair complementarity to direct informational transactions basic to gene expression has long been appreciated. Among RNA molecules, it mediates mRNA-tRNA codon-anticodon pairing and the 16S rRNA-mRNA Shine-Dalgarno interaction.
openaire   +1 more source

The incredible complexity of RNA splicing [PDF]

Genome Biology, 2016
Alternative splice isoforms are common and important and have been shown to impact many human diseases. A new study by Nellore et al. offers a comprehensive study of splice junctions in humans by re-analyzing over 21,500 public human RNA sequencing datasets.
Christelle Robert, Mick Watson
openaire   +3 more sources

Patient‐specific pharmacogenomics demonstrates xCT as predictive therapeutic target in colon cancer with possible implications in tumor connectivity

Molecular Oncology, EarlyView.
This study integrates transcriptomic profiling of matched tumor and healthy tissues from 32 colorectal cancer patients with functional validation in patient‐derived organoids, revealing dysregulated metabolic programs driven by overexpressed xCT (SLC7A11) and SLC3A2, identifying an oncogenic cystine/glutamate transporter signature linked to ...
Marco Strecker, Keren Zohar, Martin Böttcher, Thomas Wartmann, Henry Freudenstein, Maximilian Doelling, Mihailo Andric, Wenjie Shi, Or Kakhlon, Katrin Hippe, Beatrix Jahnke, Dimitrios Mougiakakos, Franziska Baenke, Daniel Stange, Roland S. Croner, Michal Linial, Ulf D. Kahlert   +16 more
wiley   +1 more source

RNA mis-splicing in disease [PDF]

Nature Reviews Genetics, 2015
The human transcriptome is composed of a vast RNA population that undergoes further diversification by splicing. Detecting specific splice sites in this large sequence pool is the responsibility of the major and minor spliceosomes in collaboration with numerous splicing factors.
Marina M, Scotti, Maurice S, Swanson
openaire   +2 more sources

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

Journal of Neuroscience, 2014
The major cell classes of the brain differ in their developmental processes, metabolism, signaling, and function. To better understand the functions and interactions of the cell types that comprise these classes, we acutely purified representative ...
Ye Zhang, Kenian Chen, S. Sloan, Mariko L. Bennett, A. Scholze, S. O’Keeffe, Hemali P. Phatnani, P. Guarnieri, Christine Caneda, N. Ruderisch, Shuyun Deng, S. A. Liddelow, Chaolin Zhang, R. Daneman, T. Maniatis, B. Barres, Jian Wu   +16 more
semanticscholar   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source