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库欣病:迈向精准医学

Cushing's disease: towards precision medicine.

作者信息

Kaiser Ursula B

机构信息

Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, 221 Longwood Avenue, Boston, MA 02115, USA.

出版信息

Cell Res. 2015 Jun;25(6):649-50. doi: 10.1038/cr.2015.53. Epub 2015 May 1.

DOI:10.1038/cr.2015.53
PMID:25930709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4456621/
Abstract

The pathogenesis of Cushing's disease is poorly understood; two recent reports identifying somatic mutations in USP8 in pituitary corticotroph tumors provide exciting advances in this field. These mutations alter EGFR trafficking and signaling, raising the prospect that EGFR inhibitors may move the treatment of this disease into the era of precision medicine.

摘要

库欣病的发病机制尚不清楚;最近有两份报告指出垂体促肾上腺皮质激素肿瘤中USP8存在体细胞突变,这为该领域带来了令人振奋的进展。这些突变改变了表皮生长因子受体(EGFR)的运输和信号传导,这使得EGFR抑制剂有望将这种疾病的治疗带入精准医学时代。

相似文献

1
Cushing's disease: towards precision medicine.库欣病:迈向精准医学
Cell Res. 2015 Jun;25(6):649-50. doi: 10.1038/cr.2015.53. Epub 2015 May 1.
2
Decoding the genetic basis of Cushing's disease: USP8 in the spotlight.解读库欣病的遗传基础:USP8成为焦点。
Eur J Endocrinol. 2015 Oct;173(4):M73-83. doi: 10.1530/EJE-15-0320. Epub 2015 May 26.
3
The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease.USP8 基因突变状态可能预测库欣病促肾上腺皮质激素腺瘤的药物敏感性。
Eur J Endocrinol. 2016 Feb;174(2):213-26. doi: 10.1530/EJE-15-0689. Epub 2015 Nov 17.
4
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.泛素特异性蛋白酶8基因在导致库欣病的腺瘤中频繁发生突变。
J Clin Endocrinol Metab. 2015 Jul;100(7):E997-1004. doi: 10.1210/jc.2015-1453. Epub 2015 May 5.
5
Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing's disease and a systematic review of the literature.对伊朗库欣病人群中泛素特异性肽酶(USP8)的靶向分析及文献系统评价。
BMC Endocr Disord. 2024 Jun 11;24(1):86. doi: 10.1186/s12902-024-01619-z.
6
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.USP8 基因突变导致库欣病。
Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8.
7
Recurrent gain-of-function USP8 mutations in Cushing's disease.库欣病中USP8复发性功能获得性突变
Cell Res. 2015 Mar;25(3):306-17. doi: 10.1038/cr.2015.20. Epub 2015 Feb 13.
8
USP8: a novel therapeutic target for Cushing's disease.USP8:库欣病的一个新的治疗靶点。
Endocrine. 2015 Nov;50(2):292-6. doi: 10.1007/s12020-015-0682-y. Epub 2015 Jul 11.
9
Genetics of Cushing's disease: an update.库欣病的遗传学:最新进展
J Endocrinol Invest. 2016 Jan;39(1):29-35. doi: 10.1007/s40618-015-0353-0. Epub 2015 Jul 25.
10
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.体细胞USP8基因突变是儿童库欣病的常见病因。
J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161.

引用本文的文献

1
Development of Human Pituitary Neuroendocrine Tumor Organoids to Facilitate Effective Targeted Treatments of Cushing's Disease.开发人垂体神经内分泌肿瘤类器官以促进库欣病的有效靶向治疗。
Cells. 2022 Oct 23;11(21):3344. doi: 10.3390/cells11213344.
2
A novel human tumoroid 3D model of sustained ACTH-secreting cell cultures to study critically needed therapies for Cushing's disease.一种新型的人类类肿瘤三维模型,用于持续分泌促肾上腺皮质激素细胞培养,以研究库欣病急需的治疗方法。
EBioMedicine. 2021 May;67:103368. doi: 10.1016/j.ebiom.2021.103368. Epub 2021 May 13.
3
A human ACTH-secreting corticotroph tumoroid model: Novel Human ACTH-Secreting Tumor Cell in vitro Model.人 ACTH 分泌细胞肿瘤模型:新型人 ACTH 分泌肿瘤细胞体外模型。
EBioMedicine. 2021 Apr;66:103294. doi: 10.1016/j.ebiom.2021.103294. Epub 2021 Mar 25.
4
USP8 Inhibitor Suppresses HER-2 Positive Gastric Cancer Cell Proliferation and Metastasis via the PI3K/AKT Signaling Pathway.USP8抑制剂通过PI3K/AKT信号通路抑制HER-2阳性胃癌细胞的增殖和转移。
Onco Targets Ther. 2020 Oct 6;13:9941-9952. doi: 10.2147/OTT.S271496. eCollection 2020.
5
Ultrasensitive Stress Biomarker Detection Using Polypyrrole Nanotube Coupled to a Field-Effect Transistor.使用与场效应晶体管耦合的聚吡咯纳米管进行超灵敏应激生物标志物检测。
Micromachines (Basel). 2020 Apr 22;11(4):439. doi: 10.3390/mi11040439.
6
Identification of recurrent USP48 and BRAF mutations in Cushing's disease.鉴定库欣病中 USP48 和 BRAF 的复发性突变。
Nat Commun. 2018 Aug 9;9(1):3171. doi: 10.1038/s41467-018-05275-5.
7
Development of two surgical approaches to the pituitary gland in the Horse.马垂体的两种手术入路的发展。
Vet Q. 2018 Dec;38(1):21-27. doi: 10.1080/01652176.2017.1415488.

本文引用的文献

1
Recurrent gain-of-function USP8 mutations in Cushing's disease.库欣病中USP8复发性功能获得性突变
Cell Res. 2015 Mar;25(3):306-17. doi: 10.1038/cr.2015.20. Epub 2015 Feb 13.
2
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.USP8 基因突变导致库欣病。
Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8.
3
Genetic mutations in sporadic pituitary adenomas--what to screen for?散发型垂体腺瘤中的基因突变——需要筛查哪些?
Nat Rev Endocrinol. 2015 Jan;11(1):43-54. doi: 10.1038/nrendo.2014.181. Epub 2014 Oct 28.
4
EGFR as a therapeutic target for human, canine, and mouse ACTH-secreting pituitary adenomas.表皮生长因子受体作为人类、犬和鼠促肾上腺皮质激素分泌垂体腺瘤的治疗靶点。
J Clin Invest. 2011 Dec;121(12):4712-21. doi: 10.1172/JCI60417. Epub 2011 Nov 21.
5
Degradation of ubiquitin: the fate of the cellular reaper.泛素降解:细胞杀手的命运。
Cell Cycle. 2010 Feb 1;9(3):523-30. doi: 10.4161/cc.9.3.11152.
6
Regulation of epidermal growth factor receptor down-regulation by UBPY-mediated deubiquitination at endosomes.内体中UBPY介导的去泛素化对表皮生长因子受体下调的调控
Mol Biol Cell. 2005 Nov;16(11):5163-74. doi: 10.1091/mbc.e05-06-0560. Epub 2005 Aug 24.