Results 111 to 120 of about 16,846 (200)

Chronic lymphocytic leukemia: molecular heterogeneity revealed by high-throughput genomics [PDF]

, 2013
Chronic lymphocytic leukemia (CLL) has been consistently at the forefront of genetic research owing to its prevalence and the accessibility of sample material.
Landau, Dan A, Wu, Catherine J
core   +1 more source

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

Identification of UBA7 expression downregulation in myelodysplastic neoplasm with SF3B1 mutations

Scientific Reports
SF3B1 gene mutations are prevalent in myelodysplastic syndrome (MDS) and define a distinct disease subtype. These mutations are associated with dysregulated genes and pathways, offering potential for novel therapeutic approaches.
Sael Alatawi, Othman R. Alzahrani, Fuad A. Alatawi, Ibrahim A. Almazni, Alhomidi Almotiri, Fahad M. Almsned   +5 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

Subtractive hybridization identifies stem cell-associated genes in an acute myeloid leukemia with poor prognosis [PDF]

, 2016
Introduction: Current prognostic markers have improved survival prediction, however, it has not advanced treatment strategies. Gene expression profiling may identify biological markers suitable as therapeutic targets.
Abdullah, Maha, Cheong, Soon Keng, Lim, Jasmine, Ngiow, Shin Foong, Seow, Heng Fong   +4 more
core  

SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer

Cell Reports
Summary: SF3B1 is the most frequently mutated splicing factor in cancer. Such mutations cause missplicing by promoting aberrant 3′ splice site usage; however, how this occurs mechanistically remains controversial.
Peiqi Xing, Pedro Bak-Gordon, Jindou Xie, Jian Zhang, Zhaoqi Liu, James L. Manley   +5 more
doaj   +1 more source

NEOPLASIAS MIELOIDES COM MUTAÇÃO SF3B1

Hematology, Transfusion and Cell Therapy, 2022
LR Fernandes, VRH Nunes, PEM Peonorio, LGF Cortes, SEA Rosa, CN Silveira, LB Lima, E Velloso, P Campregher   +8 more
openaire   +1 more source

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

Nature Communications, 2016
Mutations in the splicing factor SF3B1 are found in uveal melanoma. Here, Alsafadi et al. use RNA-sequencing data from these cancers and experimental models, and show that mutant SF3B1 promotes alternative branchpoints in a specific gene subset and that ...
Samar Alsafadi, Alexandre Houy, Aude Battistella, Tatiana Popova, Michel Wassef, Emilie Henry, Franck Tirode, Angelos Constantinou, Sophie Piperno-Neumann, Sergio Roman-Roman, Martin Dutertre, Marc-Henri Stern   +11 more
doaj   +1 more source

Dysregulated GPCR Signaling and Therapeutic Options in Uveal Melanoma. [PDF]

, 2017
Uveal melanoma is the most common primary intraocular malignant tumor in adults and arises from the transformation of melanocytes in the uveal tract. Even after treatment of the primary tumor, up to 50% of patients succumb to metastatic disease.
Aplin, Andrew E., Benovic, Jeffrey L., Chua, Vivian, Lapadula, Dominic, Randolph, Clinita, Wedegaertner, Philip B.   +5 more
core   +1 more source