Results 41 to 50 of about 9,817 (177)

CRISPR editing of sftb-1/SF3B1 in Caenorhabditis elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicing.

PLoS Genetics, 2019
SF3B1 is the most frequently mutated splicing factor in cancer. Mutations in SF3B1 likely confer clonal advantages to cancer cells but they may also confer vulnerabilities that can be therapeutically targeted.
Xènia Serrat, Dmytro Kukhtar, Eric Cornes, Anna Esteve-Codina, Helena Benlloch, Germano Cecere, Julián Cerón   +6 more
doaj   +1 more source

SF3B1 inhibition disrupts malignancy and prolongs survival in glioblastoma patients through BCL2L1 splicing and mTOR/ß-catenin pathways imbalances

Journal of Experimental & Clinical Cancer Research, 2022
Background Glioblastoma is one of the most devastating cancer worldwide based on its locally aggressive behavior and because it cannot be cured by current therapies. Defects in alternative splicing process are frequent in cancer.
Antonio C. Fuentes-Fayos, Jesús M. Pérez-Gómez, Miguel E. G-García, Juan M. Jiménez-Vacas, Cristóbal Blanco-Acevedo, Rafael Sánchez-Sánchez, Juan Solivera, Joshua J. Breunig, Manuel D. Gahete, Justo P. Castaño, Raúl M. Luque   +10 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +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

Functional validation of driver mutation‐specific uveal melanoma biomarkers: role of COL9A3 in cancer cell plasticity

The Journal of Pathology, EarlyView.
Abstract Uveal melanoma (UM) is a deadly ocular malignancy with well‐described genetic alterations that predict disease outcome. However, our current understanding of the biological underpinnings of high‐risk uveal melanoma progression remains relatively limited. Using RNA expression profiles from 250 patients with UM, we identified 12 novel biomarkers
QCC van den Bosch, RM Verdijk, H Fadlelseed, TPP van den Bosch, S Owens, S Kennedy, E Kilic, E Brosens   +7 more
wiley   +1 more source

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms

Biology, 2022
It has been reported that gene mutations in SF3B1 and PHF6 are mutually exclusive. However, this observation has never been rigorously assessed. We report the clinicopathologic and molecular genetic features of 21 cases of myeloid neoplasms with double mutations in SF3B1 and PHF6, including 9 (43%) with myelodysplastic syndrome, 5 (24%) with acute ...
Zhuang Zuo, L. Jeffrey Medeiros, Sofia Garces, Mark J. Routbort, Chi Young Ok, Sanam Loghavi, Rashmi Kanagal-Shamanna, Fatima Zahra Jelloul, Guillermo Garcia-Manero, Kelly S. Chien, Keyur P. Patel, Rajyalakshmi Luthra, C. Cameron Yin   +12 more
openaire   +3 more sources

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

Cell Reports, 2015
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of ...
Rachel B. Darman, Michael Seiler, Anant A. Agrawal, Kian H. Lim, Shouyong Peng, Daniel Aird, Suzanna L. Bailey, Erica B. Bhavsar, Betty Chan, Simona Colla, Laura Corson, Jacob Feala, Peter Fekkes, Kana Ichikawa, Gregg F. Keaney, Linda Lee, Pavan Kumar, Kaiko Kunii, Crystal MacKenzie, Mark Matijevic, Yoshiharu Mizui, Khin Myint, Eun Sun Park, Xiaoling Puyang, Anand Selvaraj, Michael P. Thomas, Jennifer Tsai, John Y. Wang, Markus Warmuth, Hui Yang, Ping Zhu, Guillermo Garcia-Manero, Richard R. Furman, Lihua Yu, Peter G. Smith, Silvia Buonamici   +35 more
doaj   +1 more source

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

Glomeruloid haemangioma in Erdheim–Chester disease: An atypical skin manifestation associated with elevated vascular endothelial growth factor‐A levels

British Journal of Haematology, EarlyView.
Glomeruloid haemangiomas and extensive angiomas occurred in a small subset of Erdheim–Chester disease patients, all showing markedly elevated vascular endothelial growth factor‐A (VEGF‐A) levels despite the absence of POEMS (polyneuropathy, organomegaly, M‐spike, and skin disease) syndrome.
Jerome Razanamahery, Matthias Papo, Francesco Pegoraro, Felix Blaison, Paul Legendre, Valentin Carado, Martin Caretti, Aubriot Lorton Marie Helene, Jean‐Francois Emile, Augusto Vaglio, Julien Haroche   +10 more
wiley   +1 more source

Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms

Cancer Science, EarlyView.
Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley   +1 more source