Results 121 to 130 of about 19,190 (266)

Expression of GNAQ, BAP1, SF3B1, and EIF1AX Proteins in the Aqueous Humor of Eyes Affected by Uveal Melanoma.

Investigative Ophthalmology and Visual Science
Purpose The purpose of this study was to quantify specific aqueous humor (AH) proteins in eyes affected by posterior uveal melanoma (UM). Methods Thirty-six eyes affected by primary UM were included.
G. Midena, R. Parrozzani, L. Frizziero, Graziana Esposito, A. Micera, E. Midena   +5 more
semanticscholar   +1 more source

Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish [PDF]

Experimental Hematology, 2016
SF3B1 (Splicing factor 3b, subunit 1) is one of the most commonly mutated factors in myelodysplastic syndrome (MDS). Although the genetic correlation between SF3B1 mutations and MDS etiology are quite strong, no in vivo model currently exists to explore how SF3B1 loss alters blood cell development.
Rosannah C. Cameron, Sara Nik, Teresa V. Bowman, Adriana De La Garza, Sara G. Payne   +4 more
openaire   +3 more sources

MicroRNA biogenesis is broadly disrupted by inhibition of the splicing factor SF3B1

Nucleic Acids Research
In animals, microRNA (miRNA) biogenesis begins with cotranscriptional cleavage of the primary (pri-)miRNA by the Microprocessor complex. Cotranscriptional splicing has been shown to influence Microprocessor cleavage when miRNAs are hosted in introns of ...
Angela Downie Ruiz Velasco, Aimee Parsons, Matthew C Heatley, Athena R G Martin, Alfredo D. Smart, Niraj Shah, C. Jopling   +6 more
semanticscholar   +1 more source

Primary myelofibrosis with increased haemoglobin concentration at presentation

British Journal of Haematology, EarlyView.
Subjects with primary myelofibrosis and elevated haemoglobin levels at diagnosis tend to have longer survival rates (OS) and blast transformation‐free survival (BTFS) than those with normal or reduced haemoglobin levels. Summary One hundred of 963 consecutive registrants with primary myelofibrosis (PMF) in the Pavia‐CSM database had haemoglobin ...
Giovanni Barosi, Rita Campanelli, Paolo Catarsi, Carlotta Abbà, Adriana Carolei, Margherita Massa, Annalisa De Silvestri, Robert Peter Gale, Vittorio Rosti   +8 more
wiley   +1 more source

Splicing-factor alterations in cancers [PDF]

, 2016
Tumor-associated alterations in RNA splicing result either from mutations in splicing-regulatory elements or changes in components of the splicing machinery.
Anczukow, O., Krainer, A. R.
core   +1 more source

Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition

Leukemia
SF3B1 mutations frequently occur in cancer yet lack targeted therapies. Clinical trials of XPO1 inhibitors, selinexor and eltanexor, in high-risk myelodysplastic neoplasms (MDS) revealed responders were enriched with SF3B1 mutations.
S. Chaudhry, Felipe Beckedorff, S. Jasdanwala, T. Totiger, Maurizio Affer, Abimbo Lawal, S. Montoya, Francesco Tamiro, Olivia Tonini, Alexandra Chirino, Andrew Adams, Anya K. Sondhi, Stephen Noudali, A. Cornista, Miah Nicholls, Jumana Afaghani, Paola Robayo, Daniel Bilbao, Stephen D Nimer, Josean Rodriguez, Shruti Bhatt, Eric Wang, Justin Taylor   +22 more
semanticscholar   +1 more source

Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia [PDF]

, 2017
Chronic lymphocytic leukemia (CLL) has heterogeneous clinical and biological behavior. Whole-genome and -exome sequencing has contributed to the characterization of the mutational spectrum of the disease, but the underlying transcriptional profile is ...
Aymerich Gregorio, Marta, Blanc, Julie, Campo Güerri, Elias, Cazorla, Maite, Clot, Guillem, Colomer Pujol, Dolors, Djebali, Sarah, Ecker, Simone, Ferreira, Pedro G., González-Pérez, Abel, Gouin, Anaïs, Guigó Serra, Roderic, Gut, Ivo G., Gut, Marta, Gómez López, Gonzalo, Jares Gerboles, Pedro, Johnson, Rory, Knowles, David G., Kulis, Marta, López Bigas, Núria, López Guillermo, Armando, López-Guerra, Mónica, López-Otin, Carlos, Martín-Subero, José Ignacio, Martínez Trillos, Alejandra, Monlong, Jean, Papasaikas, Panagiotis, Pinyol, Magda, Pisano, David G., Puente, Xose S., Quesada, Victor, Rico, Daniel, Royo Moreno, Cristina, Rozman, María, Tamborero Noguera, David, Valencia, Alfonso, Villamor i Casas, Neus   +36 more
core   +1 more source

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk

British Journal of Haematology, EarlyView.
Inherited thrombocytopenia (IT) caused by germline variants in RUNX1, ETV6 or ANKRD26 carries a high risk of developing haematological malignancy. This study examined the clinical, platelet and molecular characteristics of 66 patients with these conditions, who carried 24 distinct genetic variants in the corresponding genes.
Ana Marín‐Quílez, Ana Sánchez‐Fuentes, Ana Zamora‐Cánovas, Pedro Luis Gómez‐González, Lorena Diaz‐Ajenjo, Rocío Benito, Agustín Rodríguez‐Alén, Teresa Sevivas, Thais Murciano, Laura Murillo, Nora V. Butta, Nuria Revilla, Rosa Campos, Paola Escribano, Jordi Esteve, Nuria Fernández‐Mosteirin, Francisca Ferrer‐Marín, Laura Hernández, Jorge Huerta‐Aragonés, Antonio León, Mónica López‐Duarte, Eugenia López, Mónica Martín‐Salces, Meritxell Nomdedeu, Raquel Oña, Irene Peláez‐Pleguezuelos, Fernando Ramos, Elena Sebastián, Claudia Serrano, Cristina Sierra‐Aisa, Rosa Vidal‐Laso, José Ramón González‐Porras, María Luisa Lozano, José María Bastida, José Rivera   +34 more
wiley   +1 more source

Antitumor activity of splicing inhibitor pladienolide B in erythroleukemia: a study in cell lines [PDF]

, 2015
Trabalho final de mestrado integrado em Medicina (Hematologia/Biologia Molecular), apresentado à Faculdade de Medicina da Universidade de Coimbra.The splicing of pre-mRNA into functional mRNA, carried out by the spliceosome, represents a crucial step ...
Petronilho, Sara Lopes
core  

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