Results 141 to 150 of about 21,005 (271)
International Journal on Biological SciencesPancreatic ductal adenocarcinoma (PDAC) poses significant challenges in terms of prognosis and treatment. Recent research has identified splicing deregulation as a new cancer hallmark.
R. Sciarrillo +15 more
semanticscholar +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +1 more source
Engineering Oncogenic Hotspot Mutations on SF3B1 via CRISPR-Directed PRECIS Mutagenesis
Cancer Research CommunicationsSF3B1 is the most recurrently mutated RNA splicing gene in cancer. However, research of its pathogenic role has been hindered by a lack of disease-relevant cell line models.
Mikel Fernandez +7 more
semanticscholar +2 more sources
Blood AdvancesKey Points • The E592K variant of SF3B1 induces unique RNA missplicing that is nonoverlapping with other MDS-associated variants.• E592K is associated with elevated blasts, lack of RSs, and decreased survival.
I. Choi +23 more
semanticscholar +1 more source
The Journal of Pathology, Volume 268, Issue 1, Page 13-26, January 2026.Abstract Formalin‐fixed paraffin‐embedded (FFPE) tissue specimens represent precious resources for clinical genomic profiling studies, especially when coupled with comprehensive medical records. Even though next‐generation sequencing (NGS) is an effective tool to detect somatic mutations and somatic copy number alterations (sCNA), the biggest ...
Georgios Nteliopoulos +20 more
wiley +1 more source
Modulators of alternative splicing as novel therapeutics in cancer [PDF]
, 2015 Alternative splicing (AS), the process of removing introns from pre-mRNA and re-arrangement of exons to give several types of mature transcripts, has been described more than 40 years ago.
Oltean, Sebastian
core +2 more sources
Cell Death and DiseaseAcute liver failure (ALF) is characterized by the rapidly progressive deterioration of hepatic function, which, without effective medical intervention, results in high mortality and morbidity.
Mingxuan Li +15 more
semanticscholar +1 more source
LeukemiaSF3B1 mutations are recurrent in chronic lymphocytic leukemia (CLL), particularly enriched in clinically aggressive stereotyped subset #2. To investigate their impact, we conducted RNA-sequencing of 18 SF3B1MUT and 17 SF3B1WT subset #2 cases and ...
D. Hägerstrand +35 more
semanticscholar +1 more source
Lexicon for Clonal Hematopoiesis in Liquid Biopsy
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Historically, clonal hematopoiesis (CH) has been recognized as a confounder of cell‐free DNA (cfDNA) testing. Recent evidence now demonstrates the role of CH as a risk factor in health, generating distinct sources of cfDNA that can be leveraged for liquid biopsy diagnostics.
Robert Tell +21 more
wiley +1 more source
CRISPR directed evolution of the spliceosome for resistance to splicing inhibitors
Genome Biology, 2019 Increasing genetic diversity via directed evolution holds great promise to accelerate trait development and crop improvement. We developed a CRISPR/Cas-based directed evolution platform in plants to evolve the rice (Oryza sativa) SF3B1 spliceosomal ...
Haroon Butt +6 more
doaj +1 more source