Results 101 to 110 of about 16,846 (200)

Metastatic potential of small posterior uveal melanomas

Acta Ophthalmologica, Volume 104, Issue 2, Page e191-e203, March 2026.
Abstract Purpose To investigate the prevalence of aggressive traits in small posterior uveal melanomas (UM). Methods This retrospective, multicentre cohort study included 804 patients with small posterior UM (≤9 mm in largest basal diameter, ≤3 mm in thickness) from centres in the UK, Germany, and Sweden.
Gustav Stålhammar, Helen Kalirai, Sarah E. Coupland, Salvatore Grisanti, Svenja Rebecca Sonntag, Ayseguel Tura, Antonio Eleuteri, Rumana N. Hussain, Heinrich Heimann, Hannah Coudé Adam   +9 more
wiley   +1 more source

Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer. [PDF]

, 2018
Functional redundancy shared by paralog genes may afford protection against genetic perturbations, but it can also result in genetic vulnerabilities due to mutual interdependency1-5.
Berger, Ashton C, Bhatia, Sangeeta N, Buss, Colin G, Carr, Steven A, Cherniack, Andrew D, Choi, Peter S, Hahn, William C, Krill-Burger, John M, Lage, Kasper, Malolepsza, Edyta, Meyerson, Matthew, Nogueira, Marina F, Pedamallu, Chandra Sekhar, Schenone, Monica, Shih, Juliann, Strathdee, Craig A, Tamayo, Pablo, Tanenbaum, Benjamin, Taylor, Alison M, Tsherniak, Aviad, Vazquez, Francisca, Viswanathan, Srinivas R, Wawer, Mathias J   +22 more
core   +1 more source

SF3B1: hotspot mutazionale nei prolattinomi [PDF]

L'Endocrinologo, 2021
G. Mantovani, F. Mangili
openaire   +2 more sources

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

Arthritis &Rheumatology, Volume 78, Issue 2, Page 475-482, February 2026.
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

Inferring clonal evolution of tumors from single nucleotide somatic mutations [PDF]

, 2013
High-throughput sequencing allows the detection and quantification of frequencies of somatic single nucleotide variants (SNV) in heterogeneous tumor cell populations.
Deshwar, Amit G., Jiao, Wei, Morris, Quaid, Stein, Lincoln, Vembu, Shankar   +4 more
core   +2 more sources

Prognostic value of flow cytometry in myelodysplastic neoplasms (MDS): Composition of a FCM‐prognostic score (FCM‐PS) for overall survival

HemaSphere, Volume 10, Issue 2, February 2026.
Abstract Flow cytometry (FCM) is a co‐criterion in myelodysplastic neoplasms (MDS) diagnostics, currently not used for prognostication. This study aimed to develop an FCM‐score predicting overall survival (OS) in MDS to improve early clinical patient prognostication.
Aida Santaolalla, Uta Oelschlaegel, Susann Winter, Shirin Jamshidi, Theresia M. Westers, Katja Sockel, Martin Bornhäuser, Rosa Andres Ejarque, Farzin Farzaneh, Antonella Poloni, Anne‐Sophie Kubasch, Mieke Van Hemelrijck, Arjan A. van de Loosdrecht, Uwe Platzbecker, Shahram Kordasti   +14 more
wiley   +1 more source

Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1

Haematologica, 2013
Somatic mutations of the RNA splicing machinery have been recently identified in myelodysplastic syndromes. In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sider-oblasts, a condition characterized
Ilaria Ambaglio, Luca Malcovati, Elli Papaemmanuil, Coby M. Laarakkers, Matteo G. Della Porta, Anna Gallì, Matteo C. Da Vià, Elisa Bono, Marta Ubezio, Erica Travaglino, Riccardo Albertini, Peter J. Campbell, Dorine W. Swinkels, Mario Cazzola   +13 more
doaj   +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

SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation

The Journal of Clinical Investigation, 2023
RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly in hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and Atm deletion in B cells, but not either lesion alone, leads to the onset of ...
Martina Cusan, Haifeng Shen, Bo Zhang, Aijun Liao, Lu Yang, Meiling Jin, Mike Fernandez, Prajish Iyer, Yiming Wu, Kevyn Hart, Catherine Gutierrez, Sara Nik, Shondra M. Pruett-Miller, Jeremy Stark, Esther A. Obeng, Teresa V. Bowman, Catherine J. Wu, Ren-Jang Lin, Lili Wang   +18 more
doaj   +1 more source

Impact of cancer-associated mutations in Hsh155/SF3b1 HEAT repeats 9-12 on pre-mRNA splicing in Saccharomyces cerevisiae.

PLoS ONE, 2020
Mutations in the splicing machinery have been implicated in a number of human diseases. Most notably, the U2 small nuclear ribonucleoprotein (snRNP) component SF3b1 has been found to be frequently mutated in blood cancers such as myelodysplastic ...
Harpreet Kaur, Brent Groubert, Joshua C Paulson, Sarah McMillan, Aaron A Hoskins   +4 more
doaj   +1 more source