Results 81 to 90 of about 21,005 (271)

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia [PDF]

, 2017
This study was supported by the Instituto de Salud Carlos III (ISCIII) PMP15/00007; Ministerio de Economía y Competitividad (MINECO) SAF2015-64885-R; Generalitat de Catalunya AGAUR 2014-SGR-795; and Gilead Spain (GLD15/00288).
Clot, G., Delgado, J., López Otín, Carlos, Nadeu, Ferrán, Suárez Puente, Xosé Antón   +4 more
core   +2 more sources

Co‐occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence

Molecular Oncology, 2022
Uveal melanoma (UM) is the most common intraocular tumor in adults. Recurrent mutations in BRCA1‐associated protein 1 (BAP1) and splicing factor 3B subunit 1 (SF3B1) display a mutually exclusive pattern in UM, but the underlying mechanism is unknown.
Le Yu, Dan Zhou, Guiming Zhang, Zhonglu Ren, Xin Luo, Peng Liu, Steven W. Plouffe, Zhipeng Meng, Toshiro Moroishi, Yilei Li, Yiyue Zhang, Joan Heller Brown, Shuwen Liu, Kun‐Liang Guan   +13 more
doaj   +1 more source

Low‐risk MDS—A spotlight on precision medicine for SF3B1‐mutated patients

HemaSphere
A deep understanding of the biological mechanisms driving the pathogenesis of myelodysplastic neoplasms (MDS) is essential to develop comprehensive therapeutic approaches that will benefit patient's disease management and quality of life. In this review,
Shoshana Burke, Onima Chowdhury, K. Rouault-Pierre   +2 more
semanticscholar   +1 more source

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower‐Risk Myelodysplastic Syndromes (LR‐MDS) in the COMMANDS Study

American Journal of Hematology, EarlyView.
ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Rami S. Komrokji, Sheida Hayati, Manuel Ugidos, Guillermo Garcia‐Manero, Matteo Giovanni Della Porta, Amer M. Zeidan, Valeria Santini, Uwe Platzbecker, Anita K. Gandhi, Rajasekhar N. V. S. Suragani   +9 more
wiley   +1 more source

Characterization of the SF3B1–SUGP1 interface reveals how numerous cancer mutations cause mRNA missplicing

Genes & Development, 2023
In this study, Zhang et al. provide molecular and structural insights into the cancer-relevant interaction between spliceosome factors SF3B1 and SUGP1. They further elucidate the effect of cancer-associated mutations in SF3B1 and SUGP1 that weaken their ...
Jian Zhang, Jindou Xie, Ji Huang, Xiangyang Liu, Ruihong Xu, Jonas Tholen, W. P. Galej, Liang Tong, James L. Manley, Zhaoqi Liu   +9 more
semanticscholar   +1 more source

Does SF3B1/TET2 Double Mutation Portend Better or Worse Prognosis Than Isolated SF3B1 or TET2 Mutation? [PDF]

Cancer Genomics - Proteomics, 2018
Mutations in splicing factor 3b subunit 1 (SF3B1) have been reported to be associated with a favorable prognosis, while the prognostic impact of tet methylcytosine dioxygenase 2 (TET2) mutations is still controversial. The clinical significance of combined SF3B1 and TET2 mutation is even more uncertain.
Jinming, Song, Lynn, Moscinski, Hailing, Zhang, Xiaohui, Zhang, Mohammad, Hussaini   +4 more
openaire   +2 more sources

Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study

Arthritis &Rheumatology, EarlyView.
Objective The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Methods This multicenter international study includes patients with VEXAS from France, Israel, and Italy treated with ...
Tali Eviatar, Dafne Capelusnik, Corrado Campochiaro, Valentin Lacombe, Vincent Jachiet, Michael Zisapel, Iftach Sagy, Oshrat E. Tayer‐Shifman, David Ozeri, Shaye Kivity, Alessandro Tomelleri, Benjamin Terrier, Hagit Peleg, Thibault Comont, Karim Sacre, Pascal Woaye‐Hune, Laurent Arnaud, Estibaliz Lazaro, Vincent Grobost, Francois Lifermann, Maxime Samson, Samuel Ardois, Alice Garnier, Alexandre Maria, Alain Cantagrel, Aurore Meyer, Jean‐David Bouaziz, Mael Heiblig, Lorenzo Dagna, Elisa Diral, Olivier Kosmider, Ori Elkayam, Jérôme Hadjadj, Sophie Georgin‐Lavialle, Olivier Fain, Arsene Mekinian   +35 more
wiley   +1 more source

Gene expression and splicing alterations analyzed by high throughput RNA sequencing of chronic lymphocytic leukemia specimens. [PDF]

, 2015
BackgroundTo determine differentially expressed and spliced RNA transcripts in chronic lymphocytic leukemia specimens a high throughput RNA-sequencing (HTS RNA-seq) analysis was performed.MethodsTen CLL specimens and five normal peripheral blood CD19+ B ...
A Ameur, A Choudhury, A Hidalgo, A Rosenwald, AS Kamiguti, C Haslinger, C Soo, C Trapnell, C Trapnell, CJ David, DC Gilby, E Moon, E Moravcikova, F Colotta, F Talab, FC Kelleher, Gwen Jordaan, H Dohner, H Jiang, J Eswaran, J Vilpo, JC Marioni, JJ Dongen van, JP Venables, K Inada, K Zen, L Chen, L Wang, L Yang, LQ Zhang, M Crespo, M Rehli, M Shinohara, M Sultan, Matteo Pelegrini, ML Hermiston, MW Pfaffl, N Chiorazzi, NA Twine, O Bermudez, P Guglielmi, P Kapranov, PG Ferreira, Phillipp Nham, Q Huang, RA Higgins, RI Fernando, RK Gandhirajan, RN Damle, Ryan T. Phan, S Anders, S Courtois, S Decker, S Falt, S Ibrahim, S Liu, S Ma, S Ren, S Shen, Sanjai Sharma, SM Russell, SP Shah, SR Gunn, T Ormsby, TJ Hamblin, U Klein, V Quesada, Wei Liao, XS Puente, Y Pawitan, Y Pekarsky, Y Yu, Z Wang   +72 more
core   +1 more source

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 dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis [PDF]

, 2015
Differentiating erythroblasts execute a dynamic alternative splicing program shown here to include extensive and diverse intron retention (IR) events.
Conboy, John G., Gee, Sherry L., Mohandas, Narla, Pachter, Lior, Parra, Marilyn, Pimentel, Harold   +5 more
core   +1 more source