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Volumn 25, Issue 3, 2015, Pages 306-317

Recurrent gain-of-function USP8 mutations in Cushing's disease

(46)  Ma, Zeng Yi a   Song, Zhi Jian b   Chen, Jian Hua b,c   Wang, Yong Fei a   Li, Shi Qi a   Zhou, Liang Fu a   Mao, Ying a   Li, Yi Ming a   Hu, Rong Gui d   Zhang, Zhao Yun a   Ye, Hong Ying a   Shen, Ming a   Shou, Xue Fei a   Li, Zhi Qiang b   Peng, Hong d   Wang, Qing Zhong b   Zhou, Dai Zhan b   Qin, Xiao Lan b   Ji, Jue b   Zheng, Jie b   more..


Author keywords

Cushing's disease; mutation; pituitary adenomas; USP8; whole exome sequencing

Indexed keywords

CORTICOTROPIN; EGFR PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR RECEPTOR; ESCRT PROTEIN; GEFITINIB; PROOPIOMELANOCORTIN; PROTEIN 14 3 3; PROTEIN BINDING; PROTEIN KINASE INHIBITOR; PROTEINASE; QUINAZOLINE DERIVATIVE; SMALL INTERFERING RNA; UBIQUITIN THIOLESTERASE; USP8 PROTEIN, HUMAN;

EID: 84924508821     PISSN: 10010602     EISSN: 17487838     Source Type: Journal    
DOI: 10.1038/cr.2015.20     Document Type: Article
Times cited : (281)

References (36)
  • 4
    • 43249095400 scopus 로고    scopus 로고
    • The diagnosis of Cushing's syndrome: An Endocrine Society Clinical Practice Guideline
    • Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93:1526-1540.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1526-1540
    • Nieman, L.K.1    Biller, B.M.2    Findling, J.W.3
  • 5
    • 47549104969 scopus 로고    scopus 로고
    • Treatment of adrenocorticotropin- dependent Cushing's syndrome: A consensus statement
    • Biller BM, Grossman AB, Stewart PM, et al. Treatment of adrenocorticotropin- dependent Cushing's syndrome: a consensus statement. J Clin Endocrinol Metab 2008; 93:2454-2462.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2454-2462
    • Biller, B.M.1    Grossman, A.B.2    Stewart, P.M.3
  • 6
    • 33751104763 scopus 로고    scopus 로고
    • Role of Brg1 and HDAC2 in GR trans -repression of the pituitary POMC gene and misexpression in Cushing disease
    • Bilodeau S, Vallette-Kasic S, Gauthier Y, et al. Role of Brg1 and HDAC2 in GR trans -repression of the pituitary POMC gene and misexpression in Cushing disease. Genes Dev 2006; 20:2871-2886.
    • (2006) Genes Dev , vol.20 , pp. 2871-2886
    • Bilodeau, S.1    Vallette-Kasic, S.2    Gauthier, Y.3
  • 7
    • 0033304951 scopus 로고    scopus 로고
    • Low expression of the cell cycle inhibitor p27Kip1 in normal corticotroph cells, corticotroph tumors, and malignant pituitary tumors
    • Lidhar K, Korbonits M, Jordan S, et al. Low expression of the cell cycle inhibitor p27Kip1 in normal corticotroph cells, corticotroph tumors, and malignant pituitary tumors. J Clin Endocrinol Metab 1999; 84:3823-3830.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3823-3830
    • Lidhar, K.1    Korbonits, M.2    Jordan, S.3
  • 8
    • 15844415946 scopus 로고    scopus 로고
    • Enhanced growth of mice lacking the cyclin-dependent kinase inhibitor function of p27(Kip1)
    • Kiyokawa H, Kineman RD, Manova-Todorova KO, et al. Enhanced growth of mice lacking the cyclin-dependent kinase inhibitor function of p27(Kip1). Cell 1996; 85:721-732.
    • (1996) Cell , vol.85 , pp. 721-732
    • Kiyokawa, H.1    Kineman, R.D.2    Manova-Todorova, K.O.3
  • 9
    • 9444283260 scopus 로고    scopus 로고
    • Expression of epidermal growth factor receptor in neoplastic pituitary cells: Evidence for a role in corticotropinoma cells
    • Theodoropoulou M, Arzberger T, Gruebler Y, et al. Expression of epidermal growth factor receptor in neoplastic pituitary cells: evidence for a role in corticotropinoma cells. J Endocrinol 2004; 183:385-394.
    • (2004) J Endocrinol , vol.183 , pp. 385-394
    • Theodoropoulou, M.1    Arzberger, T.2    Gruebler, Y.3
  • 10
    • 84055217296 scopus 로고    scopus 로고
    • EGFR as a therapeutic target for human, canine, and mouse ACTH-secreting pituitary adenomas
    • Fukuoka H, Cooper O, Ben-Shlomo A, et al. EGFR as a therapeutic target for human, canine, and mouse ACTH-secreting pituitary adenomas. J Clin Invest 2011; 121:4712-4721.
    • (2011) J Clin Invest , vol.121 , pp. 4712-4721
    • Fukuoka, H.1    Cooper, O.2    Ben-Shlomo, A.3
  • 11
    • 0023522307 scopus 로고
    • Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas
    • Vallar L, Spada A, Giannattasio G. Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 1987; 330:566-568.
    • (1987) Nature , vol.330 , pp. 566-568
    • Vallar, L.1    Spada, A.2    Giannattasio, G.3
  • 14
    • 84859519451 scopus 로고    scopus 로고
    • Germline AIP mutations in apparently sporadic pituitary adenomas: Prevalence in a prospective single-center cohort of 443 patients
    • Cazabat L, Bouligand J, Salenave S, et al. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 2012; 97:E663-E670.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E663-E670
    • Cazabat, L.1    Bouligand, J.2    Salenave, S.3
  • 15
    • 77956845062 scopus 로고    scopus 로고
    • The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes
    • Stratakis CA, Tichomirowa MA, Boikos S, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet 2010; 78:457-463.
    • (2010) Clin Genet , vol.78 , pp. 457-463
    • Stratakis, C.A.1    Tichomirowa, M.A.2    Boikos, S.3
  • 16
    • 61449143634 scopus 로고    scopus 로고
    • P53 gene mutation in an atypical corticotroph adenoma with Cushing's disease
    • Kawashima ST, Usui T, Sano T, et al. P53 gene mutation in an atypical corticotroph adenoma with Cushing's disease. Clin Endocrinol (Oxf) 2009; 70:656-657.
    • (2009) Clin Endocrinol (Oxf) , vol.70 , pp. 656-657
    • Kawashima, S.T.1    Usui, T.2    Sano, T.3
  • 17
    • 23844539665 scopus 로고    scopus 로고
    • Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene
    • De Menis E, Roncaroli F, Calvari V, et al. Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. Eur J Endocrinol 2005; 153:211-215.
    • (2005) Eur J Endocrinol , vol.153 , pp. 211-215
    • De Menis, E.1    Roncaroli, F.2    Calvari, V.3
  • 18
    • 84905825179 scopus 로고    scopus 로고
    • Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease
    • Sahakitrungruang T, Srichomthong C, Pornkunwilai S, et al. Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease. J Clin Endocrinol Metab 2014; 99:E1487-1492.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. E1487-E1492
    • Sahakitrungruang, T.1    Srichomthong, C.2    Pornkunwilai, S.3
  • 19
    • 0030179298 scopus 로고    scopus 로고
    • Cushing's disease preceded by generalized glucocorticoid resistance: Clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation
    • Karl M, Lamberts SW, Koper JW, et al. Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. Proc Assoc Am Physicians 1996; 108:296-307.
    • (1996) Proc Assoc Am Physicians , vol.108 , pp. 296-307
    • Karl, M.1    Lamberts, S.W.2    Koper, J.W.3
  • 20
    • 0032526692 scopus 로고    scopus 로고
    • UBPY: A growth-regulated human ubiquitin isopeptidase
    • Naviglio S, Mattecucci C, Matoskova B, et al. UBPY: a growth-regulated human ubiquitin isopeptidase. EMBO J 1998; 17:3241-3250.
    • (1998) EMBO J , vol.17 , pp. 3241-3250
    • Naviglio, S.1    Mattecucci, C.2    Matoskova, B.3
  • 21
    • 27644438783 scopus 로고    scopus 로고
    • Regulation of epidermal growth factor receptor down-regulation by UBPY-mediated deubiquitination at endosomes
    • Mizuno E, Iura T, Mukai A, Yoshimori T, Kitamura N, Komada M. Regulation of epidermal growth factor receptor down-regulation by UBPY-mediated deubiquitination at endosomes. Mol Biol Cell 2005; 16:5163-5174.
    • (2005) Mol Biol Cell , vol.16 , pp. 5163-5174
    • Mizuno, E.1    Iura, T.2    Mukai, A.3    Yoshimori, T.4    Kitamura, N.5    Komada, M.6
  • 22
    • 34548628152 scopus 로고    scopus 로고
    • 14-3-3-dependent inhibition of the deubiquitinating activity of UBPY and its cancellation in the M phase
    • Mizuno E, Kitamura N, Komada M. 14-3-3-dependent inhibition of the deubiquitinating activity of UBPY and its cancellation in the M phase. Exp Cell Res 2007; 313:3624-3634.
    • (2007) Exp Cell Res , vol.313 , pp. 3624-3634
    • Mizuno, E.1    Kitamura, N.2    Komada, M.3
  • 23
    • 78049404751 scopus 로고    scopus 로고
    • Regulation of epidermal growth factor receptor ubiquitination and trafficking by the USP8.STAM complex
    • Berlin I, Schwartz H, Nash PD. Regulation of epidermal growth factor receptor ubiquitination and trafficking by the USP8.STAM complex. J Biol Chem 2010; 285:34909-34921.
    • (2010) J Biol Chem , vol.285 , pp. 34909-34921
    • Berlin, I.1    Schwartz, H.2    Nash, P.D.3
  • 24
    • 0031470652 scopus 로고    scopus 로고
    • The structural basis for 14-3-3:Phosphopeptide binding specificity
    • Yaffe MB, Rittinger K, Volinia S, et al. The structural basis for 14-3-3:phosphopeptide binding specificity. Cell 1997; 91:961-971.
    • (1997) Cell , vol.91 , pp. 961-971
    • Yaffe, M.B.1    Rittinger, K.2    Volinia, S.3
  • 25
    • 0021685701 scopus 로고
    • A decade of pituitary microsurgery. The Herbert Olivecrona lecture
    • Wilson CB. A decade of pituitary microsurgery. The Herbert Olivecrona lecture. J Neurosurg 1984; 61:814-833.
    • (1984) J Neurosurg , vol.61 , pp. 814-833
    • Wilson, C.B.1
  • 26
    • 0027450982 scopus 로고
    • Pituitary adenomas with invasion of the cavernous sinus space: A magnetic resonance imaging classification compared with surgical findings
    • discussion 617-618
    • Knosp E, Steiner E, Kitz K, Matula C. Pituitary adenomas with invasion of the cavernous sinus space: a magnetic resonance imaging classification compared with surgical findings. Neurosurgery 1993; 33:610-617; discussion 617-618.
    • (1993) Neurosurgery , vol.33 , pp. 610-617
    • Knosp, E.1    Steiner, E.2    Kitz, K.3    Matula, C.4
  • 29
    • 34548136082 scopus 로고    scopus 로고
    • Of old and new diseases: Genetics of pituitary ACTH excess (Cushing) and deficiency
    • Drouin J, Bilodeau S, Vallette S. Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency. Clin Genet 2007; 72:175-182.
    • (2007) Clin Genet , vol.72 , pp. 175-182
    • Drouin, J.1    Bilodeau, S.2    Vallette, S.3
  • 31
    • 41149150219 scopus 로고    scopus 로고
    • The Cdk inhibitor p27 in human cancer: Prognostic potential and relevance to anticancer therapy
    • Chu IM, Hengst L, Slingerland JM. The Cdk inhibitor p27 in human cancer: prognostic potential and relevance to anticancer therapy. Nat Rev Cancer 2008; 8:253-267.
    • (2008) Nat Rev Cancer , vol.8 , pp. 253-267
    • Chu, I.M.1    Hengst, L.2    Slingerland, J.M.3
  • 32
    • 34347346071 scopus 로고    scopus 로고
    • Essential role of ubiquitin-specific protease 8 for receptor tyrosine kinase stability and endocytic trafficking in vivo
    • Niendorf S, Oksche A, Kisser A, et al. Essential role of ubiquitin-specific protease 8 for receptor tyrosine kinase stability and endocytic trafficking in vivo. Mol Cell Biol 2007; 27:5029-5039.
    • (2007) Mol Cell Biol , vol.27 , pp. 5029-5039
    • Niendorf, S.1    Oksche, A.2    Kisser, A.3
  • 33
    • 84881137952 scopus 로고    scopus 로고
    • USP8 is a novel target for overcoming gefitinib resistance in lung cancer
    • Byun S, Lee SY, Lee J, et al. USP8 is a novel target for overcoming gefitinib resistance in lung cancer. Clin Cancer Res 2013; 19:3894-3904.
    • (2013) Clin Cancer Res , vol.19 , pp. 3894-3904
    • Byun, S.1    Lee, S.Y.2    Lee, J.3
  • 34
    • 84863012620 scopus 로고    scopus 로고
    • USP8 promotes smoothened signaling by preventing its ubiquitination and changing its subcellular localization
    • Xia R, Jia H, Fan J, Liu Y, Jia J. USP8 promotes smoothened signaling by preventing its ubiquitination and changing its subcellular localization. PLoS Biol 2012; 10:e1001238.
    • (2012) PLoS Biol , vol.10 , pp. e1001238
    • Xia, R.1    Jia, H.2    Fan, J.3    Liu, Y.4    Jia, J.5
  • 35
    • 28744435343 scopus 로고    scopus 로고
    • Expression and function of sonic hedgehog pathway components in pituitary adenomas: Evidence for a direct role in hormone secretion and cell proliferation
    • Vila G, Theodoropoulou M, Stalla J, et al. Expression and function of sonic hedgehog pathway components in pituitary adenomas: evidence for a direct role in hormone secretion and cell proliferation. J Clin Endocrinol Metab 2005; 90 :6687-6694.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 6687-6694
    • Vila, G.1    Theodoropoulou, M.2    Stalla, J.3
  • 36
    • 85028154139 scopus 로고    scopus 로고
    • Mutations in the deubiquitinase gene USP8 cause Cushing's disease
    • Reincke M, Sbiera S, Hayakawa A, et al. Mutations in the deubiquitinase gene USP8 cause Cushing's disease. Nat Genet 2015; 47:31-38.
    • (2015) Nat Genet , vol.47 , pp. 31-38
    • Reincke, M.1    Sbiera, S.2    Hayakawa, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.