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1
SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms.106例治疗相关髓系肿瘤患者的SETBP1突变
Haematologica. 2014 Sep;99(9):e152-3. doi: 10.3324/haematol.2014.108159. Epub 2014 Jun 6.
2
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.658例骨髓增生异常综合征、慢性粒单核细胞白血病和继发性急性髓系白血病患者中的SETBP1突变
Leukemia. 2013 Jun;27(6):1401-3. doi: 10.1038/leu.2013.35. Epub 2013 Feb 5.
3
SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.中国急性髓系白血病和骨髓增生异常综合征患者中的SETBP1突变
Pathol Res Pract. 2018 May;214(5):706-712. doi: 10.1016/j.prp.2018.03.010. Epub 2018 Mar 7.
4
SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia.SETBP1突变存在于青少年粒单核细胞白血病和骨髓增生异常综合征中,但不存在于儿童急性髓系白血病中。
Br J Haematol. 2014 Jan;164(1):156-9. doi: 10.1111/bjh.12595. Epub 2013 Oct 14.
5
SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.SETBP1突变驱动ASXL1突变的骨髓增生异常综合征中的白血病转化。
Leukemia. 2015 Apr;29(4):847-57. doi: 10.1038/leu.2014.301. Epub 2014 Oct 13.
6
SETBP1 mutation analysis in 944 patients with MDS and AML.944例骨髓增生异常综合征和急性髓系白血病患者的SETBP1突变分析
Leukemia. 2013 Oct;27(10):2072-5. doi: 10.1038/leu.2013.145. Epub 2013 May 7.
7
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.伴有孤立性17号染色体长臂等臂染色体的髓系肿瘤在SETBP1、SRSF2、ASXL1和NRAS中显示出高频突变。
Oncotarget. 2016 Mar 22;7(12):14251-8. doi: 10.18632/oncotarget.7350.
8
Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies.仅SETBP1热点突变与髓系恶性肿瘤中的难治性疾病相关。
J Cancer Res Clin Oncol. 2017 Dec;143(12):2511-2519. doi: 10.1007/s00432-017-2518-z. Epub 2017 Sep 14.
9
Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.SETBP1 突变对原发性骨髓增生异常综合征患者的临床意义及其在疾病进展过程中的稳定性。
Am J Hematol. 2014 Feb;89(2):181-6. doi: 10.1002/ajh.23611. Epub 2013 Nov 20.
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SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.SETBP1 突变发生在 9%的 MDS/MPN 和 4%的 MPN 病例中,与非典型 CML、单体 7、i(17)(q10) 等臂染色体、ASXL1 和 CBL 突变密切相关。
Leukemia. 2013 Sep;27(9):1852-60. doi: 10.1038/leu.2013.133. Epub 2013 Apr 30.

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1
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.对SET结合蛋白1发生突变的患者进行全基因组测序联合RNA测序分析。
Front Neurosci. 2022 Sep 7;16:980000. doi: 10.3389/fnins.2022.980000. eCollection 2022.
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Molecular Pathogenesis of -Negative Atypical Chronic Myeloid Leukemia.阴性非典型慢性髓系白血病的分子发病机制
Front Oncol. 2021 Nov 11;11:756348. doi: 10.3389/fonc.2021.756348. eCollection 2021.
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Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.非典型慢性髓性白血病的综合基因组、功能和预后特征分析
Hemasphere. 2020 Nov 6;4(6):e497. doi: 10.1097/HS9.0000000000000497. eCollection 2020 Dec.
4
The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution.治疗相关髓系肿瘤的突变负担与原发性骨髓增生异常综合征相似,但分布特征不同。
Leukemia. 2019 Dec;33(12):2842-2853. doi: 10.1038/s41375-019-0479-8. Epub 2019 May 14.
5
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.SETBP1 通过作为表观遗传枢纽来诱导发育基因网络的转录。
Nat Commun. 2018 Jun 6;9(1):2192. doi: 10.1038/s41467-018-04462-8.
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Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying mutation.一名携带突变的穆尔-托雷综合征患者发生的伴有7号染色体单体性的治疗相关骨髓增生异常综合征。
Mol Clin Oncol. 2018 Feb;8(2):306-309. doi: 10.3892/mco.2017.1532. Epub 2017 Dec 8.
7
dysregulation in congenital disorders and myeloid neoplasms.先天性疾病和髓系肿瘤中的调节异常。
Oncotarget. 2017 Apr 19;8(31):51920-51935. doi: 10.18632/oncotarget.17231. eCollection 2017 Aug 1.
8
Somatic SETBP1 mutations in myeloid neoplasms.髓系肿瘤中的体细胞SETBP1突变。
Int J Hematol. 2017 Jun;105(6):732-742. doi: 10.1007/s12185-017-2241-1. Epub 2017 Apr 26.
9
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.辛-吉二氏综合征和血液系统恶性肿瘤中重叠的SETBP1功能获得性突变。
PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.
10
Clonal evolution in therapy-related neoplasms.治疗相关肿瘤中的克隆进化。
Oncotarget. 2017 Feb 14;8(7):12031-12040. doi: 10.18632/oncotarget.14509.

本文引用的文献

1
Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.SETBP1 突变对原发性骨髓增生异常综合征患者的临床意义及其在疾病进展过程中的稳定性。
Am J Hematol. 2014 Feb;89(2):181-6. doi: 10.1002/ajh.23611. Epub 2013 Nov 20.
2
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.SETBP1 基因突变在骨髓增生异常综合征中经常发生,并且常常与与疾病进展相关的细胞遗传学标志物共存。
Br J Haematol. 2013 Oct;163(2):235-9. doi: 10.1111/bjh.12491. Epub 2013 Jul 24.
3
Somatic SETBP1 mutations in myeloid malignancies.体细胞 SETBP1 突变与髓系恶性肿瘤。
Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7.
4
SETBP1 mutation analysis in 944 patients with MDS and AML.944例骨髓增生异常综合征和急性髓系白血病患者的SETBP1突变分析
Leukemia. 2013 Oct;27(10):2072-5. doi: 10.1038/leu.2013.145. Epub 2013 May 7.
5
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.658例骨髓增生异常综合征、慢性粒单核细胞白血病和继发性急性髓系白血病患者中的SETBP1突变
Leukemia. 2013 Jun;27(6):1401-3. doi: 10.1038/leu.2013.35. Epub 2013 Feb 5.
6
Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia.治疗相关性骨髓增生异常综合征和急性髓系白血病的突变分析。
Haematologica. 2013 Jun;98(6):908-12. doi: 10.3324/haematol.2012.076729. Epub 2013 Jan 24.
7
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.非典型慢性髓性白血病中反复出现的 SETBP1 突变。
Nat Genet. 2013 Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9.
8
Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases.治疗相关髓系肿瘤以及由慢性骨髓增殖性疾病演变而来的急性白血病中表观遗传调节因子和剪接体机制的突变。
Leukemia. 2013 Apr;27(4):982-5. doi: 10.1038/leu.2012.267. Epub 2012 Sep 11.
9
Genetic pathways leading to therapy-related myeloid neoplasms.导致治疗相关性髓系肿瘤的遗传途径。
Mediterr J Hematol Infect Dis. 2011;3(1):e2011019. doi: 10.4084/MJHID.2011.019. Epub 2011 May 16.
10
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.同胞中出现的严重面中部回缩、多发颅骨异常、马蹄内翻足以及心脏和肾脏畸形综合征。
Am J Med Genet. 1978;1(4):361-75. doi: 10.1002/ajmg.1320010402.

SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms.

作者信息

Fabiani Emiliano, Falconi Giulia, Fianchi Luana, Criscuolo Marianna, Leone Giuseppe, Voso Maria Teresa

机构信息

Institute of Hematology, Università Cattolica del Sacro Cuore, Rome, Italy

Institute of Hematology, Università Cattolica del Sacro Cuore, Rome, Italy.

出版信息

Haematologica. 2014 Sep;99(9):e152-3. doi: 10.3324/haematol.2014.108159. Epub 2014 Jun 6.

DOI:10.3324/haematol.2014.108159
PMID:24907359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4562546/
Abstract
摘要