Results 221 to 230 of about 65,308 (255)

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Eur J Med Genet
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG.   +8 more
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Aberrant splicing in neurological diseases

WIREs RNA, 2013
Splicing of precursor messenger RNA (pre‐mRNA) removes the intervening sequences (introns) and joins the expressed regions (exons) in the nucleus, before an intron‐containing eukaryotic mRNA transcript can be exported and translated into proteins in the cytoplasm.
Dairong, Feng, Jiuyong, Xie
openaire   +2 more sources

Normal and aberrant splicing of LMNA

Journal of Medical Genetics, 2014
The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5′ and 3′ untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse ...
Luo, Y-B, Mastaglia, F.L., Wilton, S.D.
openaire   +2 more sources

Pre-mRNA splicing aberrations and cancer

Frontiers in Bioscience, 2008
Splicing requires the accurate recognition of exonic sequences from the surrounding thousands of nucleotides of intronic sequence and is achieved by the coordinate interplay of splicing regulatory elements in genes and the trans-acting RNA and protein molecules to which they bind.
Pettigrew, C.A., Brown, M.A.
openaire   +5 more sources

Aberrant splicing prediction across human tissues

Nature Genetics, 2022
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 H. Çelik, Florian R. Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A. Yépez, Julien Gagneur   +6 more
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Aberrant and Alternative Splicing in Cancer

Cancer Research, 2004
Abstract Pre-mRNA splicing is a sophisticated and ubiquitous nuclear process, which is a natural source of cancer-causing errors in gene expression. Intronic splice site mutations of tumor suppressor genes often cause exon-skipping events that truncate proteins just like classical nonsense mutations.
openaire   +2 more sources

Aberrant and alternative splicing in skeletal system disease

Gene, 2013
The main function of skeletal system is to support the body and help movement. A variety of factors can lead to skeletal system disease, including age, exercise, and of course genetic makeup and expression. Pre-mRNA splicing plays a crucial role in gene expression, by creating multiple protein variants with different biological functions.
Xin, Fan, Liling, Tang
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Targeting serine- and arginine-rich splicing factors to rectify aberrant alternative splicing

Drug Discovery Today, 2023
Serine- and arginine-rich splicing factors are pivotal modulators of constitutive splicing and alternative splicing that bind to the cis-acting elements in precursor mRNAs and facilitate the recruitment and assembly of the spliceosome. Meanwhile, SR proteins shuttle between the nucleus and cytoplasm with a broad implication in multiple RNA-metabolizing
Dianyang Li, Wenying Yu, Maode Lai
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Aberrant alternative splicing in cancer: Splicing events and their regulatory mechanisms (Review)

International Journal of Oncology
Alternative RNA splicing provides cells with transcriptomic and proteomic diversity by adding another layer of regulation to gene expression. Accumulating evidence has revealed that defects in alternative splicing contribute to a variety of features of cancer development, including the modulation of cancer heterogeneity, evasion of apoptosis of cancer ...
Yaxuan, Sun, Xiaohui, Hu
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[Hematological malignancies driven by aberrant splicing].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 2023
The process of RNA splicing plays a pivotal role in gene expression and genetic information modification by converting pre-mRNA into mature mRNA. Dysregulation of this process has been associated with aberrant gene expression and function, leading to hematopoietic malignancies. Through recent clinical and mouse model analyses, insights have been gained
Weijia, Zang, Wataru, Saika, Yumi, Aoyama, Daichi, Inoue   +3 more
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