Results 11 to 20 of about 64,155 (301)

Aurora kinase A regulates cancer-associated RNA aberrant splicing in breast cancer [PDF]

Heliyon, 2023
The contribution of oncogenes to tumor-associated RNA splicing and the relevant molecular mechanisms therein require further elaboration. Here, we show that oncogenic Aurora kinase A (AURKA) promotes breast cancer-related RNA aberrant splicing in a ...
Sisi Li, Yangfan Qi, Jiachuan Yu, Yuchao Hao, Lingzhi Xu, Xudong Ding, Minghui Zhang, Jingshu Geng   +7 more
doaj   +4 more sources

Aberrant splicing prediction across human tissues [PDF]

Nature Genetics, 2023
Aberrant splicing is a major cause of genetic disorders but its direct detection in transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While DNA-based machine learning models allow prioritizing rare variants for affecting splicing, their performance on predicting tissue-specific aberrant splicing remains unassessed.
Nils Wagner, Muhammed Hasan Çelik, Florian R. Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A. Yépez, Julien Gagneur   +6 more
openalex   +4 more sources

Aberrant Bcl-x splicing in cancer: from molecular mechanism to therapeutic modulation [PDF]

Journal of Experimental & Clinical Cancer Research, 2021
Bcl-x pre-mRNA splicing serves as a typical example to study the impact of alternative splicing in the modulation of cell death. Dysregulation of Bcl-x apoptotic isoforms caused by precarious equilibrium splicing is implicated in genesis and development ...
Zhihui Dou, Dapeng Zhao, Xiaohua Chen, Caipeng Xu, Xiaodong Jin, Xuetian Zhang, Yupei Wang, Xiaodong Xie, Qiang Li, Cuixia Di, Hong Zhang   +10 more
doaj   +2 more sources

Regulation of RNA Splicing: Aberrant Splicing Regulation and Therapeutic Targets in Cancer [PDF]

Cells, 2021
RNA splicing is a critical step in the maturation of precursor mRNA (pre-mRNA) by removing introns and exons. The combination of inclusion and exclusion of introns and exons in pre-mRNA can generate vast diversity in mature mRNA from a limited number of ...
Koji Kitamura, Keisuke Nimura
doaj   +3 more sources

Aberrant Alternative Splicing Is Another Hallmark of Cancer [PDF]

International Journal of Cell Biology, 2013
The vast majority of human genes are alternatively spliced. Not surprisingly, aberrant alternative splicing is increasingly linked to cancer. Splice isoforms often encode proteins that have distinct and even antagonistic properties.
Michael Ladomery
doaj   +3 more sources

SNRPB promotes gastric cancer progression by regulating aberrant splicing of PUF60 [PDF]

Cell Death and Disease
Alternative splicing is a pivotal regulatory mechanism in cellular biology that critically influences the tumorigenesis, progression, and phenotypic diversity of cancer.
Dan Xiang, Jiaxin Yang, Miaofang Xiao, Cong Long, Yangxuan Lin, Chenchen Mao, Xin Liu, Dianfeng Mei, Wangkai Xie, Zheng Han, Chenbin Chen, Xiaoming Lin, Xian Shen, Xiangyang Xue, Tanzhou Chen   +14 more
doaj   +2 more sources

All reported non-canonical splice site variants in GLA cause aberrant splicing. [PDF]

Clin Exp Nephrol, 2023
AbstractBackgroundFabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in theGLAgene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities inGLA. Most
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K.   +17 more
europepmc   +3 more sources

CLN6-related continuum phenotype caused by aberrant splicing. [PDF]

Epilepsia Open
AbstractNeuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. CLN6‐related NCLs include both late‐infantile and adult myoclonic form.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L.   +16 more
europepmc   +5 more sources

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).
Guang Bai, Stuart A. Lipton
openalex   +3 more sources

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing. [PDF]

Sci Rep, 2023
AbstractAchromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large cohort of achromatopsia patients and/or listed in common variant databases.
Reuter P, Walter M, Kohl S, Weisschuh N.
europepmc   +4 more sources