Results 101 to 110 of about 19,190 (266)

Co-mutation of ASXL1 and SF3B1 Predicts Poorer Overall Survival Than Isolated ASXL1 or SF3B1 Mutations

In Vivo, 2023
Background/Aim: Mutations in the ASXL transcriptional regulator 1 (ASXL1) and splicing factor 3b subunit 1(SF3B1) genes are commonly observed in myeloid neoplasms and are independent predicative factors for overall survival (OS). Only a few contradictory
Jinming Song, L. Moscinski, E. Yang, Haipeng Shao, M. Hussaini, Hailing Zhang   +5 more
semanticscholar   +1 more source

Exploring Splicing Modulation as an Innovative Approach to Combat Pancreatic Cancer: SF3B1 Emerges as a Prognostic Indicator and Therapeutic Target

International Journal on Biological Sciences
Pancreatic 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, Francesca Terrana, Annalisa Comandatore, G. P. Supadmanaba, Bing Wang, B. E. Hassouni, G. Mantini, Gerrit Jansen, Amir Avan, D. Carbone, P. Diana, Godefridus J. Peters, Luca Morelli, J. Cloos, Y. Assaraf, E. Giovannetti   +15 more
semanticscholar   +1 more source

The outcome of Chronic lymphocytic leukaemia patients with 97% IGHV gene identity to germline is distinct from cases with <97% identity and similar to those with 98% identity. [PDF]

, 2016
IGHV gene mutational status has prognostic significance in chronic lymphocytic leukaemia (CLL) but the percentage of mutations that correlates best with clinical outcome remains controversial.
Agathangelidis, Baliakas, Baliakas, Barbas, Bomben, Bulian, Catovsky, Cheson, Chu, Damle, Darzentas, Davis, Ghia, Hallek, Hamblin, Hamblin, Kanduri, Kröber, Marincevic, Messmer, Murray, Ntoufa, Orchard, Oscier, Oscier, Oscier, Packham, Paterson, Pepper, Pflug, Puente, Queirós, Rassenti, Rossi, Rossi, Rossi, Stamatopoulos, Stevenson, Strefford, Sutton, Tobin, Tobin, Tobin, Xochelli   +43 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

SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM).

Blood, 2020
The 2016 revision of the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics.
L. Malcovati, K. Stevenson, E. Papaemmanuil, D. Neuberg, R. Bejar, J. Boultwood, D. Bowen, P. Campbell, B. Ebert, P. Fenaux, T. Haferlach, M. Heuser, J. Jansen, R. Komrokji, J. Maciejewski, M. Walter, M. Fontenay, G. Garcia-Manero, T. Graubert, A. Karsan, M. Meggendorfer, A. Pellagatti, D. Sallman, M. Savona, M. Sekeres, D. Steensma, S. Tauro, F. Thol, P. Vyas, A. A. van de Loosdrecht, D. Haase, H. Tüchler, P. Greenberg, S. Ogawa, E. Hellstrom-Lindberg, M. Cazzola   +35 more
semanticscholar   +1 more source

Altered RNA Export in SF3B1 Mutants Increases Sensitivity to Nuclear Export Inhibition

Blood, 2023
SF3B1 mutations are the most frequent spliceosomal alterations across cancers, yet no successful therapy exists to target this pathway. Previous findings from a phase 2 clinical trial of the XPO1 inhibitor selinexor in patients with high-risk ...
S. Chaudhry, Felipe Beckedorff, T. Totiger, Maurizio Affer, Nidhi Hariramani, S. Montoya, A. Cornista, Daniel Bilbao, Evan R. Roberts, Jumana Afaghani, Josean Rodriguez, Eric Wang, Justin Taylor   +12 more
semanticscholar   +1 more source

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

Patient‐derived xenograft models in pan‐cancer: From bench to clinic

Interdisciplinary Medicine, EarlyView.
Abstract Patient‐derived xenograft (PDX) models provide a robust preclinical platform that preserves the genetic and phenotypic heterogeneity of patient tumors while mirroring their tumor genetic characteristics, which retain malignant cells and the tumor pathological structure, making them valuable for studying tumor progression and developing ...
Jiatong Li, Ao Gu, Nannan Tang, Gokhan Zengin, Meng‐Yao Li, Yingbin Liu   +5 more
wiley   +1 more source

DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer

Proceedings of the National Academy of Sciences of the United States of America, 2022
Significance High frequencies of mutations in the spliceosomal gene SF3B1 occur in many cancers. Understanding the mechanism by which these mutations affect RNA splicing is important for development of therapeutic interventions. SF3B1 mutations have been
Jian Zhang, Ji Huang, Ke Xu, Peiqi Xing, Yue Huang, Zhaoqi Liu, L. Tong, J. Manley   +7 more
semanticscholar   +1 more source

SF3B1 and BAP1 mutations in blue nevus-like melanoma [PDF]

Modern Pathology, 2017
Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging.
Hansgeorg Müller, Louise Jackett, Louise Jackett, Bastian Schilling, Bastian Schilling, Klaus G. Griewank, Dirk Schadendorf, Thomas Wiesner, Ioana Cosgarea, Antje Sucker, Thomas Mentzel, Michael Emberger, Inga Möller, Rajmohan Murali, Johannes van de Nes, Johannes van de Nes, Richard A. Scolyer, Richard A. Scolyer, Tobias Schimming, Annette Paschen, Uwe Hillen, Elisabeth Livingstone, Heinz Kutzner, Arno Rütten, Henning Reis, Simone L. Scholz, Lisa Zimmer   +26 more
openaire   +3 more sources