Results 21 to 30 of about 258,637 (293)

Aberrant RNA Splicing in Cancer [PDF]

Annual Review of Cancer Biology, 2019
RNA splicing, the enzymatic process of removing segments of premature RNA to produce mature RNA, is a key mediator of proteome diversity and regulator of gene expression. Increased systematic sequencing of the genome and transcriptome of cancers has identified a variety of means by which RNA splicing is altered in cancer relative to normal cells ...
Luisa, Escobar-Hoyos, Katherine, Knorr, Omar, Abdel-Wahab   +2 more
openaire   +2 more sources

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

Frontiers in Medicine, 2022
X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura, Tomohiko Yamamura, Tomoko Horinouchi, Yuya Aoto, Rachel Lennon, Rachel Lennon, Kandai Nozu   +6 more
doaj   +1 more source

Therapeutic Targeting of Alternative Splicing: A New Frontier in Cancer Treatment

Frontiers in Oncology, 2022
The ability for cells to harness alternative splicing enables them to diversify their proteome in order to carry out complex biological functions and adapt to external and internal stimuli. The spliceosome is the multiprotein-RNA complex charged with the
Anthony J. Murphy, Alex H. Li, Peichao Li, Hong Sun   +3 more
doaj   +1 more source

Aberrant splicing isoforms detected by full-length transcriptome sequencing as transcripts of potential neoantigens in non-small cell lung cancer

Genome Biology, 2021
Background Long-read sequencing of full-length cDNAs enables the detection of structures of aberrant splicing isoforms in cancer cells. These isoforms are occasionally translated, presented by HLA molecules, and recognized as neoantigens. This study used
Miho Oka, Liu Xu, Toshihiro Suzuki, Toshiaki Yoshikawa, Hiromi Sakamoto, Hayato Uemura, Akiyasu C. Yoshizawa, Yutaka Suzuki, Tetsuya Nakatsura, Yasushi Ishihama, Ayako Suzuki, Masahide Seki   +11 more
doaj   +1 more source

Aberrant RNA splicing and therapeutic opportunities in cancers [PDF]

Cancer Science, 2021
AbstractThere has been accumulating evidence that RNA splicing is frequently dysregulated in a variety of cancers and that hotspot mutations affecting key splicing factors, SF3B1, SRSF2 and U2AF1, are commonly enriched across cancers, strongly suggesting that aberrant RNA splicing is a new class of hallmark that contributes to the initiation and/or ...
Hirofumi Yamauchi, Kazuki Nishimura, Akihide Yoshimi   +2 more
openaire   +2 more sources

The aberrant splicing of BAF45d links splicing regulation and transcription in glioblastoma [PDF]

Neuro-Oncology, 2018
Glioblastoma, the most aggressive primary brain tumor, is genetically heterogeneous. Alternative splicing (AS) plays a key role in numerous pathologies, including cancer. The objectives of our study were to determine whether aberrant AS could play a role in the malignant phenotype of glioma and to understand the mechanism underlying its aberrant ...
Aldave G, Gonzalez-Huarriz M, Rubio A, Romero JP, Ravi D, Minana B, Cuadrado-Tejedor M, Garcia-Osta A, Verhaak R, Xipell E, Martinez-Velez N, de la Rocha AA, Puigdelloses M, Garcia-Moure M, Marigil M, Perez-Larraya JG, Marin-Bejar O, Huarte M, CARRO M, Ferrarese R, Belda-Iniesta C, Ayuso A, Prat-Acin R, Pastor F, Diez-Valle R, Tejada S, Alonso MM   +26 more
openaire   +5 more sources

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Vořechovský, Igor, Chindo Hicks, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Alternative splicing in breast cancer

Journal of Bio-X Research, 2023
Alternative splicing allows a gene to produce multiple proteins and is the main source of human proteome diversity. Aberrant regulation of alternative splicing produces proteins with different structures and can lead to altered protein function ...
Xin Wen, Ze Yan, Li Sha
doaj   +1 more source

Retroviral Splicing Suppressor Sequesters a 3′ Splice Site in a 50S Aberrant Splicing Complex [PDF]

Molecular and Cellular Biology, 2005
Retroviral replication requires both spliced and unspliced mRNAs. Splicing suppression of avian retroviral RNA depends in part upon a cis-acting element within the gag gene called the negative regulator of splicing (NRS). The NRS, linked to a downstream intron and exon (NRS-Ad3'), was not capable of splicing in vitro.
Keith E, Giles, Karen L, Beemon
openaire   +2 more sources

Tetracycline aptamer-controlled regulation of pre-mRNA splicing in yeast [PDF]

, 2007
Splicing of pre-mRNA is a critical step in mRNA maturation and disturbances cause several genetic disorders. We apply the synthetic tetracycline (tc)-binding riboswitch to establish a gene expression system for conditional tc-dependent control of pre ...
Weigand, Julia E., Suess, Beatrix, Weigand, Julia, Süß, Beatrix   +3 more
core   +1 more source