Results 61 to 70 of about 16,846 (200)

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

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +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

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

Does SF3B1/TET2 Double Mutation Portend Better or Worse Prognosis Than Isolated SF3B1 or TET2 Mutation? [PDF]

Cancer Genomics - Proteomics, 2018
Mutations in splicing factor 3b subunit 1 (SF3B1) have been reported to be associated with a favorable prognosis, while the prognostic impact of tet methylcytosine dioxygenase 2 (TET2) mutations is still controversial. The clinical significance of combined SF3B1 and TET2 mutation is even more uncertain.
Jinming, Song, Lynn, Moscinski, Hailing, Zhang, Xiaohui, Zhang, Mohammad, Hussaini   +4 more
openaire   +2 more sources

Pro‐ATO/Allicin Liposomes for Dual‐Pathway Targeting of p53‐Mutant Tumors

Advanced Science, EarlyView.
Schematic illustration of the “pro‐ATO”/allicin liposomal strategy. Liposomal encapsulation improves the stability and bioavailability of both agents while masking allicin's odor. Upon release in the tumor microenvironment, ATO reactivates structural p53 mutants, and allicin inhibits ATR signaling while releasing H2S, collectively inducing synthetic ...
Xiaoling Xu, WeiYi Cheng, Menghang Yang, Li He, WeiYe Ren, JingQuan Chen, LiTing He, Dandan Bao, Zhihong Zhu, Lixin Wang, Qinghua Yao, Ji‐Gang Piao   +11 more
wiley   +1 more source

A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis [PDF]

, 2015
Differentiating erythroblasts execute a dynamic alternative splicing program shown here to include extensive and diverse intron retention (IR) events.
Conboy, John G., Gee, Sherry L., Mohandas, Narla, Pachter, Lior, Parra, Marilyn, Pimentel, Harold   +5 more
core   +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

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  

Characterisation of the biflavonoid hinokiflavone as a premRNA splicing modulator that inhibits SENP [PDF]

, 2017
We have identified the plant biflavonoid hinokiflavone as an inhibitor of splicing in vitro and modulator of alternative splicing in cells. Chemical synthesis confirms hinokiflavone is the active molecule.
Abovich, Arango, Asai, Boswell, Chabot, Chen, Chiba, Cox, Cox, Cáceres, David, Ferhi, Fong, Gao, Gao, Harborne, Hendriks, Hett, Kaida, Kalva, Konarska, Kotake, Kumar, Lamond, Lamond, Larrayoz, Le, Lee, Lomenick, Makarov, Naryshkin, O'Brien, Pai, Pan, Papasaikas, Papasaikas, Pelisch, Pozzi, Rappsilber, Ratni, Sakai, Tammsalu, Tammsalu, UniProt Consortium, Wahl, Webb, Wen, Wiśniewski, Woll, Wu, Xiao, Zuo   +51 more
core   +5 more sources