Results 31 to 40 of about 64,155 (301)

Detection of aberrant splicing events in RNA-seq data using FRASER

Nature Communications, 2021
Aberrant splicing is a major contributor to rare disease, but detection accuracy using current methods is limited. Here, the authors develop an algorithm that detects aberrant splicing and intron retention events from RNA-seq data and apply it to ...
Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur   +8 more
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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 alternative splicing in breast cancer [PDF]

Journal of Molecular Cell Biology, 2019
Abstract Alternative splicing is critical for human gene expression regulation, which plays a determined role in expanding the diversity of functional proteins. Importantly, alternative splicing is a hallmark of cancer and a potential target for cancer therapeutics.
Quan Yang, Jinyao Zhao, Wenjing Zhang, Dan Chen, Yang Wang   +4 more
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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 Alternative Splicing Events in Parkinson's Disease [PDF]

Cell Transplantation, 2013
Alternative splicing (AS) using a sole gene to express multiple transcripts with diverse protein coding sequences and/or RNA regulatory elements raises genomic complexities. In the nervous system, several thousand AS events play important roles in ion transportation, receptor recognition, neurotransmission, memory, and learning.
Ru-Huei Fu, Shih-Ping Liu, Shyh-Jer Huang, Hung-Jen Chen, Pin-Ru Chen, Ya-Hsien Lin, Yu-Chen Ho, Wen-Lin Chang, Chang-Hai Tsai, Woei-Cherng Shyu, Shinn-Zong Lin M.D., Ph.D.   +10 more
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UPF3 suppresses aberrant spliced mRNA in Arabidopsis [PDF]

The Plant Journal, 2005
SummaryIt has been reported that eukaryotic organisms have a nonsense‐mediated mRNA decay (NMD) system to exclude aberrant mRNAs that produce truncated proteins. NMD is an RNA surveillance pathway that degrades mRNAs possessing premature translation termination codons (PTCs), thus avoiding production of possibly toxic truncated proteins.
Hori K, Watanabe Y
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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

Aberrant splicing and drug resistance in AML [PDF]

Journal of Hematology & Oncology, 2016
The advent of next-generation sequencing technologies has unveiled a new window into the heterogeneity of acute myeloid leukemia (AML). In particular, recurrent mutations in spliceosome machinery and genome-wide aberrant splicing events have been recognized as a prominent component of this disease.
Rosalia de Necochea-Campion, Geoffrey P. Shouse, Qi Zhou, Saied Mirshahidi, Chien-Shing Chen   +4 more
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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
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Silent disruption: aberrant splicing in VWD [PDF]

Blood, 2016
In this issue of Blood, Yadegari et al1 report in a patient with type 1 von Willebrand disease (VWD) a novel synonymous von Willebrand factor (VWF) genetic variant and aberrant VWF splicing mechanism leading to VWF mRNA intron retention. The index patient presented with mucosal and provoked bleeding and low VWF level (VWF:Ag) and activity (VWF:GPIb) of
openaire   +2 more sources