Results 51 to 60 of about 117,100 (294)

Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]

, 2018
Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K., Iomini, Carlo, Lin, Huawen, Zhang, Zhengyan   +3 more
core   +2 more sources

Underestimated effect of intragenic HIV-1 DNA methylation on viral transcription in infected individuals [PDF]

, 2020
Background: The HIV-1 proviral genome harbors multiple CpG islands (CpGIs), both in the promoter and intragenic regions. DNA methylation in the promoter region has been shown to be heavily involved in HIV-1 latency regulation in cultured cells.
De Meyer, Tim, De Spiegelaere, Ward, Kinloch-de Loes, Sabine, Kint, Sam, Malatinková, Eva, Trypsteen, Wim, Van Criekinge, Wim, Vandekerckhove, Linos   +7 more
core   +2 more sources

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

Kidney International Reports
Introduction: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities.
Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu   +14 more
doaj   +1 more source

The Nefarious Nexus of Noncoding RNAs in Cancer [PDF]

, 2018
The past decade has witnessed enormous progress, which has seen the noncoding RNAs (ncRNAs) turn from the so called dark matter RNA to critical functional molecules, influencing most physiological processes in development and disease contexts.
Anastasiadou, Eleni, Faggioni, Alberto, J Slack, Frank, Trivedi, Pankaj   +3 more
core   +1 more source

A bioinformatic analysis identifies circadian expression of splicing factors and time-dependent alternative splicing events in the HD-MY-Z cell line [PDF]

, 2019
The circadian clock regulates key cellular processes and its dysregulation is associated to several pathologies including cancer. Although the transcriptional regulation of gene expression by the clock machinery is well described, the role of the clock ...
Abreu, Mónica, Astaburuaga, Rosario, Basti, Alireza, Genov, Nikolai, Relógio, Angela   +4 more
core   +1 more source

Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease

Frontiers in Genetics, 2021
Alternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases the transcriptomic and proteomic complexity within an organism.
M. Brandon Titus, Adeline W. Chang, Eugenia C. Olesnicky   +2 more
doaj   +1 more source

Aberrant splicing in B-cell acute lymphoblastic leukemia [PDF]

Nucleic Acids Research, 2018
Aberrant splicing is a hallmark of leukemias with mutations in splicing factor (SF)-encoding genes. Here we investigated its prevalence in pediatric B-cell acute lymphoblastic leukemias (B-ALL), where SFs are not mutated. By comparing these samples to normal pro-B cells, we found thousands of aberrant local splice variations (LSVs) per sample, with 279
Black, Kathryn L, Naqvi, Ammar S, Asnani, Mukta, Hayer, Katharina E, Yang, Scarlett Y, Gillespie, Elisabeth, Bagashev, Asen, Pillai, Vinodh, Tasian, Sarah K, Gazzara, Matthew R, Carroll, Martin, Taylor, Deanne, Lynch, Kristen W, Barash, Yoseph, Thomas-Tikhonenko, Andrei   +14 more
openaire   +4 more sources

RNA modification-mediated aberrant alternative splicing: An underlying driver of disease pathogenesis

Cell Investigation
RNA modification and alternative splicing are central mechanisms in the regulation of eukaryotic gene expression. RNA modifications, which occur in a variety of chemical forms, exert widespread influences on RNA structure, stability and function ...
Jin Zeng, Li-Ting Diao, Shu-Juan Xie, Zhen-Dong Xiao   +3 more
doaj   +1 more source

Viruses and the cellular RNA decay machinery. [PDF]

, 2010
The ability to control cellular and viral gene expression, either globally or selectively, is central to a successful viral infection, and it is also crucial for the host to respond and eradicate pathogens.
Gaglia, Marta, Glaunsinger, Britt
core   +1 more source

Aberrant RNA Splicing in Sporadic Amyotrophic Lateral Sclerosis [PDF]

Neuron, 1998
We wish to thank the anonymous referees of this review who contributed greatly to the clarity of its message (and hopefully avoided aberrancy).
Bai, Guang, Lipton, Stuart A
openaire   +2 more sources