Results 131 to 140 of about 21,005 (271)

Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability [PDF]

, 2019
THO/TREX is a conserved complex with a role in messenger ribonucleoprotein biogenesis that links gene expression and genome instability. Here, we show that human THO interacts with MFAP1 (microfibrillar-associated protein 1), a spliceosome-associated ...
Aguilera López, Andrés, Andújar, Eloísa, Barroso Ceballos, Sonia Inés, García Rondón, Ana, Luna Varo, Rosa María, Pérez Calero, Mónica, Salas Armenteros, Irene   +6 more
core   +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-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

SF3B1: hotspot mutazionale nei prolattinomi [PDF]

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

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
Sara El Hoss, Maria A. Lizarralde‐Iragorri, Thiago Trovati Maciel, Olivier Hermine   +3 more
wiley   +1 more source

Mutational landscape of RNA-binding proteins in human cancers [PDF]

, 2017
RNA Binding Proteins (RBPs) are a class of post-transcriptional regulatory molecules which are increasingly documented to be dysfunctional in cancer genomes. However, our current understanding of these alterations is limited.
Bhat-Nakshatri, Poornima, Gonzalez-Perez, Abel, Janga, Sarath Chandra, Nakshatri, Harikrishna, Neelamraju, Yaseswini   +4 more
core   +2 more sources

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

Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review

Current Oncology
Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow aspiration in the presence of either (i) ≥15% RS or (ii) 5–14% RS and an SF3B1 mutation.
Shamim Mortuza, B. Chin‐Yee, Tyler E. James, I. Chin-Yee, Ben D Hedley, J. Ho, Lalit Saini, A. Lazo-Langner, Laila Schenkel, P. Bhai, B. Sadikovic, Jonathan Keow, Nikhil Sangle, Cyrus C. Hsia   +13 more
semanticscholar   +1 more source

NPM1 and IDH1/2 Mutations Show Limited Prognostic Impact in Relapsed/Refractory AML: Evidence From the AVALON Cohort

Hematological Oncology, Volume 44, Issue 1, January 2026.
ABSTRACT In the AVALON cohort of relapsed/refractory AML treated with venetoclax plus hypomethylating agents, NPM1 and IDH1/2 mutations showed no significant impact on response or survival. These findings indicate that prognostic models for relapsed AML should consider treatment context rather than baseline mutation status.
Calogero Vetro, Irene Azzali, Elisabetta Petracci, Cristina Papayannidis, Eleonora Eleuteri, Fanny Erika Palumbo, Vincenzo Federico, Nicola Fracchiolla, Patrizia Zappasodi, Maria Paola Martelli, Maria Benedetta Giannini, Lorenzo Brunetti, Raffaele Palmieri, Jacopo Nanni, Giorgia Simonetti, Fabio Guolo, Paola Minetto, Luca Maurillo, Federica Gigli, Atto Billio, Elisabetta Todisco, Giovanni Martinelli, Giovanni Marconi   +22 more
wiley   +1 more source

Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress [PDF]

, 2012
10.1172/JCI63051Journal of Clinical Investigation12282793 ...
Chelsea Mullins, Chesi, Gaofeng Huang, Garlisi, Lan Lu, Leonard B. Maggi, Liang Chu, Mack Y. Su, Michael H. Tomasson, Ravi Vij, Richelda, Seth Crosby, Toyokawa, Wee Joo Chng   +13 more
core   +2 more sources