Results 261 to 270 of about 64,155 (301)

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

A Systematic Identification of RBPs Driving Aberrant Splicing in Cancer

Lobato-Fernández C, Gimeno M, Martín AS, Anorbe A, Rubio A, Ferrer-Bonsoms JA.   +5 more
europepmc   +1 more source

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease. [PDF]

Cells
Suárez-Herrera N, Li CHZ, Leijsten N, Karjosukarso DW, Corradi Z, Bukkems F, Duijkers L, Cremers FPM, Hoyng CB, Garanto A, Collin RWJ.   +10 more
europepmc   +1 more source

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
europepmc   +1 more source

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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

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   +3 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

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

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
openaire   +2 more sources