Results 91 to 100 of about 21,005 (271)

Modeling SF3B1 Mutations in Cancer: Advances, Challenges, and Opportunities [PDF]

Cancer Cell, 2016
In this issue of Cancer Cell, Obeng et al. identify the consequences of expressing the most common mutation in the spliceosomal gene SF3B1 on hematopoiesis. The knockin mouse model described represents a valuable tool to dissect the effects of SF3B1 mutations on transformation, splicing, and less well-characterized functions of SF3B1.
Daichi, Inoue, Omar, Abdel-Wahab
openaire   +2 more sources

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

SRSF2 Is Essential For Hematopoiesis and Its Mutations Dysregulate Alternative RNA Splicing In MDS [PDF]

, 2013
Myelodysplastic syndromes (MDS) are a group of neoplasms that are ineffective in generating multiple lineages of myeloid cells and have various risks to progress to acute myeloid leukemia.
Chen, Liang, Dekelver, Russell, Fu, Xiang-Dong, Heuser, Michael, Komeno, Yukiko, Lin, Leo, Monterroza, Dora D, Qiu, Jinsong, Thol, Felicitas, Xu, YiJun, Zhang, Dong-Er   +10 more
core  

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

Rewards of divergence in sequences, 3-D structures and dynamics of yeast and human spliceosome SF3b complexes

Current Research in Structural Biology, 2021
The evolution of homologous and functionally equivalent multiprotein assemblies is intriguing considering sequence divergence of constituent proteins.
Arangasamy Yazhini, Sankaran Sandhya, Narayanaswamy Srinivasan   +2 more
doaj   +1 more source

Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms

Leukemia, 2021
We conducted a phase I clinical trial of H3B-8800, an oral small molecule that binds Splicing Factor 3B1 (SF3B1), in patients with MDS, CMML, or AML.
D. Steensma, M. Wermke, V. Klimek, P. Greenberg, P. Font, R. Komrokji, Jay Yang, A. Brunner, H. Carraway, L. Adès, A. Al-Kali, J. Alonso‐Dominguez, A. Alfonso-Piérola, Catherine C Coombs, H. Deeg, I. Flinn, J. Foran, G. Garcia-Manero, M. Maris, Malgorzata McMasters, J. Micol, J. P. de Oteyza, F. Thol, E. Wang, J. Watts, Justin Taylor, R. Stone, V. Gourineni, A. Marino, Huilan Yao, B. Destenaves, Xiaobin Yuan, Kun Yu, S. Dar, Lernik Ohanjanian, K. Kuida, Jianjun Xiao, C. Scholz, A. Gualberto, U. Platzbecker   +39 more
semanticscholar   +1 more source

Metastatic potential of small posterior uveal melanomas

Acta Ophthalmologica, EarlyView.
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

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

The SF3B1 inhibitor spliceostatin A (SSA) elicits apoptosis in chronic lymphocytic leukemia cells through downregulation of Mcl-1

, 2015
The pro-survival Bcl-2 family member Mcl-1 is expressed in chronic lymphocytic leukemia (CLL), with high expression correlated with progressive disease.
Blakemore, S.J., Blunt, M.D., Cragg, M.S., Dobson, R.C., Duncombe, A., Forconi, F., Koide, K., Larrayoz, M., Oscier, D., Packham, G., Rose-Zerilli, M.J.J., Steele, A.J., Strefford, J.C., Walewska, R., Yoshida, M.   +14 more
core   +1 more source