Results 11 to 20 of about 4,164,069 (213)

Splicing-factor alterations in cancers [PDF]

RNA, 2016
Tumor-associated alterations in RNA splicing result either from mutations in splicing-regulatory elements or changes in components of the splicing machinery. This review summarizes our current understanding of the role of splicing-factor alterations in human cancers.
Anczuków, Olga, Krainer, Adrian R
core   +5 more sources

Splicing factor mutations and cancer [PDF]

WIREs RNA, 2014
Recent advances in high‐throughput sequencing technologies have unexpectedly revealed that somatic mutations of splicing factor genes frequently occurred in several types of hematological malignancies, including myelodysplastic syndromes, other myeloid neoplasms, and chronic lymphocytic leukemia.
Yoshida, Kenichi, Ogawa, Seishi
openaire   +5 more sources

Modulation of Splicing Factor Function and Alternative Splicing Outcomes

, 2022
Alternative RNA splicing is an important means of genetic control and transcriptome diversity. Alternative splicing events are frequently studied independently, and coordinated splicing controlled by common factors is often overlooked: The molecular mechanisms by which splicing regulators promote or repress specific pre-mRNA processing are still not ...
Chen, Steven Xiwei
openaire   +3 more sources

CRISPR artificial splicing factors [PDF]

Nature Communications, 2020
Abstract Alternative splicing allows expression of mRNA isoforms from a single gene, expanding the diversity of the proteome. Its prevalence in normal biological and disease processes warrant precise tools for modulation.
Menghan Du, Nathaniel Jillette, Jacqueline Jufen Zhu, Sheng Li, Albert Wu Cheng   +4 more
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Processive phosphorylation of alternative splicing factor/splicing factor 2 [PDF]

Proceedings of the National Academy of Sciences, 2003
SR proteins, named for their multiple arginine/serine (RS) dipeptide repeats, are critical components of the spliceosome, influencing both constitutive and alternative splicing of pre-mRNA. SR protein function is regulated through phosphorylation of their RS domains by multiple kinases, including a family of evolutionarily conserved SR protein-specific
Brandon E, Aubol, Sutapa, Chakrabarti, Jacky, Ngo, Jennifer, Shaffer, Brad, Nolen, Xiang-Dong, Fu, Gourisankar, Ghosh, Joseph A, Adams   +7 more
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Splicing factor mutations in hematologic malignancies [PDF]

Blood, 2021
Abstract Mutations in genes encoding RNA splicing factors were discovered nearly 10 years ago and are now understood to be among the most recurrent genetic abnormalities in patients with all forms of myeloid neoplasms and several types of lymphoproliferative disorders, as well as subjects with clonal hematopoiesis.
Sisi Chen, Salima Benbarche, Omar Abdel-Wahab   +2 more
openaire   +2 more sources

Alternative Splicing Events and Splicing Factors Are Prognostic in Adrenocortical Carcinoma [PDF]

Frontiers in Genetics, 2020
Alternative splicing is involved in the pathogenesis of human diseases, including cancer. Here, we investigated the potential application of alternative splicing events (ASEs) and splicing factors (SFs) in the prognosis of adrenocortical carcinoma (ACC).
Jian Lv, Jian Lv, Yuan He, Lili Li, Zhihua Wang, Zhihua Wang   +5 more
openaire   +3 more sources

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]

, 2014
Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj, Lisa Roberts, Korir, Paul K, Cathal Seoighe, Raj Ramesar, Seoighe, Cathal, Paul K Korir, Roberts, Lisa   +7 more
core   +1 more source

Perturbation of chromatin structure globally affects localization and recruitment of splicing factors [PDF]

, 2012
Chromatin structure is an important factor in the functional coupling between transcription and mRNA processing, not only by regulating alternative splicing events, but also by contributing to exon recognition during constitutive splicing.
Risso, Guillermo, J, Risso Guillermo J., Lleres, D, Jernej Ule, Ignacio E. Schor (120406), Llères, David, Llères David, Pawellek, A., Ule, J., Kornblihtt Alberto R., Schor, Ignacio, E, Risso, GJ, Ule, Jernej, Lamond, Angus I.; id_orcid, Lamond, A.I., Alberto R. Kornblihtt (120413), Lamond, Angus, I, Kornblihtt, Alberto, R, Pawellek, Andrea, Andrea Pawellek, Alberto R Kornblihtt, David Llères (68840), Guillermo J. Risso (120408), Andrea Pawellek (120410), Risso, Guillermo J., Schor*, I.E., Schor, I.E., Lamond Angus I., Schor, Ignacio E., Ule, J, Ule Jernej, Risso, G.J., David Llères, Kornblihtt, A.R., Ignacio E Schor, Pawellek Andrea, Lleres*, D., Lamond, AI, Guillermo J Risso, Angus I Lamond, Kornblihtt, Alberto R., Llères, D., Schor Ignacio E., Pawellek, A, Schor, IE, Angus I. Lamond (13065), Kornblihtt, AR, Jernej Ule (115588)   +47 more
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SNEV is an evolutionarily conserved splicing factor whose oligomerization is necessary for spliceosome assembly [PDF]

, 2005
We have isolated the human protein SNEV as downregulated in replicatively senescent cells. Sequence homology to the yeast splicing factor Prp19 suggested that SNEV might be the orthologue of Prp19 and therefore might also be involved in pre-mRNA splicing.
Grillari, Johannes, Lamond, Angus I., Stadler, Guido, Voglauer, Regina, Eisenhaber, Frank, Löscher, Marlies, Lamond, Angus I.; id_orcid, Pokar, Marion, Ajuh, Paul, Grey, Martin, Fortschegger, Klaus, Ernst, Wolfgang, Katinger, Hermann, Chusainow, Janet   +13 more
core   +1 more source