Results 81 to 90 of about 9,852 (179)

Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation

Nature Communications
Myelodysplastic syndromes (MDS) with mutated SF3B1 gene present features including a favourable outcome distinct from MDS with mutations in other splicing factor genes SRSF2 or U2AF1. Molecular bases of these divergences are poorly understood.
David Rombaut, Carine Lefèvre, Tony Rached, Sabrina Bondu, Anne Letessier, Raphael M. Mangione, Batoul Farhat, Auriane Lesieur-Pasquier, Daisy Castillo-Guzman, Ismael Boussaid, Chloé Friedrich, Aurore Tourville, Magali De Carvalho, Françoise Levavasseur, Marjorie Leduc, Morgane Le Gall, Sarah Battault, Marie Temple, Alexandre Houy, Didier Bouscary, Lise Willems, Sophie Park, Sophie Raynaud, Thomas Cluzeau, Emmanuelle Clappier, Pierre Fenaux, Lionel Adès, Raphael Margueron, Michel Wassef, Samar Alsafadi, Nicolas Chapuis, Olivier Kosmider, Eric Solary, Angelos Constantinou, Marc-Henri Stern, Nathalie Droin, Benoit Palancade, Benoit Miotto, Frédéric Chédin, Michaela Fontenay   +39 more
doaj   +1 more source

Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1.

PLoS ONE, 2017
More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a ...
Shuiling Jin, Hairui Su, Ngoc-Tung Tran, Jing Song, Sydney S Lu, Ying Li, Suming Huang, Omar Abdel-Wahab, Yanyan Liu, Xinyang Zhao   +9 more
doaj   +1 more source

Distinct routes of clonal progression in SF3B1-mutant myelodysplastic syndromes

Blood Advances
: Myelodysplastic syndromes (MDS) are clonal stem cell disorders driven by heterogeneous genetic alterations leading to variable clinical course. MDS with splicing factor SF3B1 mutations is a distinct subtype with a favorable outcome.
Martina Sarchi, Courtnee A. Clough, Anna Gallì, Cristina Picone, Beatrice Ferrari, Edie I. Crosse, Laura D. Baquero Galvis, Claudia Fiducioso, Nelli Aydinyan, J. Philip Creamer, Sara Pozzi, Elisabetta Molteni, Chiara Elena, Robert K. Bradley, Luca Malcovati, Sergei Doulatov   +15 more
doaj   +1 more source

Splicing factor Sf3b1 facilitates maintenance of neuronal dendrites by modulating mitochondrial health

Cellular and Molecular Life Sciences
The intricate process of dendritic arborization is essential for forming functional neural circuits, and many of the underlying molecular and cellular mechanisms have been uncovered.
Wei-Chia Tsao, Yi-Chun Huang, Hsin-Ho Sung, Chi-Hung Lin, Hwei-Jan Hsu, Hsiu-Fen Lin, Cheng-Ting Chien   +6 more
doaj   +1 more source

Two oppositely-charged sf3b1 mutations cause defective development, impaired immune response, and aberrant selection of intronic branch sites in Drosophila

PLoS Genetics, 2021
SF3B1 mutations occur in many cancers, and the highly conserved His662 residue is one of the hotspot mutation sites. To address effects on splicing and development, we constructed strains carrying point mutations at the corresponding residue His698 in ...
Bei Zhang, Zhan Ding, Liang Li, Ling-Kun Xie, Yu-Jie Fan, Yong-Zhen Xu   +5 more
doaj  

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 713-714, August 2026.
Andrew Y. Sung, Jackson W. Douglas, Olga K. Weinberg, Sharon K. Germans, Weina Chen   +4 more
wiley   +1 more source

Modulation of splicing factors SF3B1 and SRSF1 by polypurine reverse Hoogsteen hairpins affects the splicing pattern of estrogen receptor α in breast cancer cells

Cancer Cell International
Multiple mRNA splice variants for the human estrogen receptor α (ERα) with one or more skipped exons have been identified, and some encode isoforms with modified functions compared with the wild-type 66 kDa protein.
Ester López-Aguilar, Judith Cullell, Ana Delgado, Laia Monserrat, Violeta Serra, Carlos J. Ciudad, Véronique Noé   +6 more
doaj   +1 more source

SF3B1 Gene [PDF]

, 2020
openaire   +1 more source

SF3B1: hotspot mutazionale nei prolattinomi [PDF]

L'Endocrinologo, 2021
Giovanna Mantovani, Federica Mangili
openaire   +1 more source

SF3B1: from core splicing factor to oncogenic driver

RNA
Highly recurrent somatic mutations in the gene encoding the core splicing factor SF3B1 are drivers of multiple cancer types. SF3B1 is a scaffold protein that orchestrates multivalent protein–protein interactions within the spliceosome that are essential for recognizing the branchsite (BS) and selecting the 3′ splice site during the earliest stage of ...
Bak-Gordon, Pedro, Manley, James L.
openaire   +2 more sources