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Quoted phrase not found in phrase index: "SRSF2 Gene Deletion"
Page 1
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes.
Bersanelli M, Travaglino E, Meggendorfer M, Matteuzzi T, Sala C, Mosca E, Chiereghin C, Di Nanni N, Gnocchi M, Zampini M, Rossi M, Maggioni G, Termanini A, Angelucci E, Bernardi M, Borin L, Bruno B, Bonifazi F, Santini V, Bacigalupo A, Voso MT, Oliva E, Riva M, Ubezio M, Morabito L, Campagna A, Saitta C, Savevski V, Giampieri E, Remondini D, Passamonti F, Ciceri F, Bolli N, Rambaldi A, Kern W, Kordasti S, Sole F, Palomo L, Sanz G, Santoro A, Platzbecker U, Fenaux P, Milanesi L, Haferlach T, Castellani G, Della Porta MG. Bersanelli M, et al. J Clin Oncol. 2021 Apr 10;39(11):1223-1233. doi: 10.1200/JCO.20.01659. Epub 2021 Feb 4. J Clin Oncol. 2021. PMID: 33539200 Free PMC article.
Specific co-mutation patterns account for clinical heterogeneity within SF3B1- and SRSF2-related MDS. MDS with complex karyotype and/or TP53 gene abnormalities and MDS with acute leukemia-like mutations show poorest prognosis. ...By integrating 63 clinical and genom …
Specific co-mutation patterns account for clinical heterogeneity within SF3B1- and SRSF2-related MDS. MDS with complex karyotype and/ …
Allogeneic Hematopoietic Cell Transplantation Improves Outcome in Myelodysplastic Syndrome Across High-Risk Genetic Subgroups: Genetic Analysis of the Blood and Marrow Transplant Clinical Trials Network 1102 Study.
Versluis J, Saber W, Tsai HK, Gibson CJ, Dillon LW, Mishra A, McGuirk J, Maziarz RT, Westervelt P, Hegde P, Mukherjee D, Martens MJ, Logan B, Horowitz M, Hourigan CS, Nakamura R, Cutler C, Lindsley RC; Blood and Marrow Transplant Clinical Trials Network. Versluis J, et al. J Clin Oncol. 2023 Oct 1;41(28):4497-4510. doi: 10.1200/JCO.23.00866. Epub 2023 Aug 22. J Clin Oncol. 2023. PMID: 37607457 Free PMC article.
METHODS: We performed targeted sequencing in 309 patients age 50-75 years with International Prognostic Scoring System (IPSS) intermediate-2 or high-risk MDS, enrolled in the Blood and Marrow Transplant Clinical Trials Network 1102 study and assessed the association …
METHODS: We performed targeted sequencing in 309 patients age 50-75 years with International Prognostic Scoring System (IPSS) …
Complex landscape of alternative splicing in myeloid neoplasms.
Hershberger CE, Moyer DC, Adema V, Kerr CM, Walter W, Hutter S, Meggendorfer M, Baer C, Kern W, Nadarajah N, Twardziok S, Sekeres MA, Haferlach C, Haferlach T, Maciejewski JP, Padgett RA. Hershberger CE, et al. Leukemia. 2021 Apr;35(4):1108-1120. doi: 10.1038/s41375-020-1002-y. Epub 2020 Aug 4. Leukemia. 2021. PMID: 32753690 Free PMC article.
Myeloid neoplasms are characterized by frequent mutations in at least seven components of the spliceosome that have distinct roles in the process of pre-mRNA splicing. Hotspot mutations in SF3B1, SRSF2, U2AF1 and loss of function mutations in ZRSR2 have revealed widely dif …
Myeloid neoplasms are characterized by frequent mutations in at least seven components of the spliceosome that have distinct roles in the pr …
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O, Leibu R, Newman H, Rizel L, Perlman I, Ben-Yosef T. Eidinger O, et al. Mol Vis. 2015 Dec 8;21:1295-306. eCollection 2015. Mol Vis. 2015. PMID: 26702251 Free PMC article.
In silico analysis predicted that this deletion would lead to altered intron 21 splicing. Bioinformatic analysis predicted that a recognition site for the SRSF2 splicing factor is located within the deleted sequence. ...
In silico analysis predicted that this deletion would lead to altered intron 21 splicing. Bioinformatic analysis predicted …
Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels.
Inoue D, Matsumoto M, Nagase R, Saika M, Fujino T, Nakayama KI, Kitamura T. Inoue D, et al. Exp Hematol. 2016 Mar;44(3):172-6.e1. doi: 10.1016/j.exphem.2015.11.011. Epub 2015 Dec 15. Exp Hematol. 2016. PMID: 26700326 Free article.
Most of these mutations are thought to be loss-of-function mutations, with some exceptions, such as the gain-of-function IDH1/2 and SRSF2 mutations. Among the mutations, ASXL1 mutations attract much attention; the ASXL1 mutations are identified in a variety of hematologic …
Most of these mutations are thought to be loss-of-function mutations, with some exceptions, such as the gain-of-function IDH1/2 and SRSF2 …
Primary microRNA transcript retention at sites of transcription leads to enhanced microRNA production.
Pawlicki JM, Steitz JA. Pawlicki JM, et al. J Cell Biol. 2008 Jul 14;182(1):61-76. doi: 10.1083/jcb.200803111. J Cell Biol. 2008. PMID: 18625843 Free PMC article.
MicroRNAs (miRNAs) are noncoding RNAs with important roles in regulating gene expression. In studying the earliest nuclear steps of miRNA biogenesis, we observe that primary miRNA (pri-miRNA) transcripts retained at transcription sites due to the deletion of …
MicroRNAs (miRNAs) are noncoding RNAs with important roles in regulating gene expression. In studying the earliest nuclear steps of m …
Identification of a domain in human immunodeficiency virus type 1 rev that is required for functional activity and modulates association with subnuclear compartments containing splicing factor SC35.
D'Agostino DM, Ferro T, Zotti L, Meggio F, Pinna LA, Chieco-Bianchi L, Ciminale V. D'Agostino DM, et al. J Virol. 2000 Dec;74(24):11899-910. doi: 10.1128/jvi.74.24.11899-11910.2000. J Virol. 2000. PMID: 11090190 Free PMC article.
The activity of human immunodeficiency virus Rev as a regulator of viral mRNA expression is tightly linked to its ability to shuttle between the nucleus and cytoplasm; these properties are conferred by a leucine-rich nuclear export signal (NES) and by an arginine-rich nuclear loc …
The activity of human immunodeficiency virus Rev as a regulator of viral mRNA expression is tightly linked to its ability to shuttle between …