Results 1 to 10 of about 117,100 (294)

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   +5 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

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   +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 Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD [PDF]

Advanced Science
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two severe diseases sharing similar genetic, pathological, and clinical features, including TDP‐43 pathology.
Chen Du, Yinming Li, Rong Wu, Yufei Shen, Jiayi Yang, Xuan Xiao, Yu Zhou   +6 more
doaj   +2 more sources

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]

BMC Bioinformatics, 2010
Background Polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Hicks Chindo, Vořechovský Igor, Churbanov Alexander   +2 more
doaj   +3 more sources

saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval [PDF]

Genome Biology
RNA-seq data analysis relies on many different tools, each tailored to specific applications and coming with unique assumptions and limitations. Indeed, tools for differential transcript usage or rare disease diagnosis through splicing and expression ...
Alexandre Segers, Jeroen Gilis, Mattias Van Heetvelde, Davide Risso, Elfride De Baere, Lieven Clement   +5 more
doaj   +2 more sources

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders [PDF]

Experimental and Molecular Medicine
Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology.
Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle   +7 more
doaj   +2 more sources