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Volumn 22, Issue 21, 2013, Pages 4383-4397

Birt-hogg-dubé syndrome is a novel ciliopathy

(19)  Luijten, Monique N H a   Basten, Sander G c   Claessens, Tijs a,e   Vernooij, Marigje a   Scott, Claire L d   Janssen, Renske a   Easton, Jennifer A a   Kamps, Miriam A F a   Vreeburg, Maaike b   Broers, Jos L V a   Geel, Michel van a,b   Menko, Fred H f   Harbottle, Richard P g   Nookala, Ravi K h   Tee, Andrew R e   Land, Stephen C d   Giles, Rachel H c   Coull, Barry J a   van Steensel, Maurice A M a,b  


Author keywords

[No Author keywords available]

Indexed keywords

ESTRONE;

EID: 84885692467     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt288     Document Type: Article
Times cited : (64)

References (60)
  • 1
    • 0016770524 scopus 로고
    • Perifollicular fibromatosis cutis with polyps of the colon-a cutaneo-intestinal syndrome sui generis
    • Hornstein, O.P. and Knickenberg, M.(1975) Perifollicular fibromatosis cutis with polyps of the colon-a cutaneo-intestinal syndrome sui generis. Arch. Dermatol. Res., 253, 161-175.
    • (1975) Arch. Dermatol. Res. , vol.253 , pp. 161-175
    • Hornstein, O.P.1    Knickenberg, M.2
  • 2
    • 0017760671 scopus 로고
    • Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
    • Birt, A.R., Hogg, G.R., and Dube, W.J. (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch. Dermatol., 113, 1674-1677.
    • (1977) Arch. Dermatol. , vol.113 , pp. 1674-1677
    • Birt, A.R.1    Hogg, G.R.2    Dube, W.J.3
  • 7
    • 0000939691 scopus 로고    scopus 로고
    • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
    • Nickerson, M.L., Warren, M.B., Toro, J.R., Matrosova, V., Glenn, G., Turner, M.L., Duray, P., Merino, M., Choyke, P., Pavlovich, C.P. et al. (2002) Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell, 2, 157-164.
    • (2002) Cancer Cell , vol.2 , pp. 157-164
    • Nickerson, M.L.1    Warren, M.B.2    Toro, J.R.3    Matrosova, V.4    Glenn, G.5    Turner, M.L.6    Duray, P.7    Merino, M.8    Choyke, P.9    Pavlovich, C.P.10
  • 8
    • 77953719290 scopus 로고    scopus 로고
    • Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling
    • Hong, S.B., Oh, H., Valera, V.A., Stull, J., Ngo, D.T., Baba, M., Merino, M.J., Linehan, W.M., and Schmidt, L.S. (2010) Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol. Cancer, 9, 160.
    • (2010) Mol. Cancer , vol.9 , pp. 160
    • Hong, S.B.1    Oh, H.2    Valera, V.A.3    Stull, J.4    Ngo, D.T.5    Baba, M.6    Merino, M.J.7    Linehan, W.M.8    Schmidt, L.S.9
  • 11
  • 14
    • 79952536485 scopus 로고    scopus 로고
    • Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
    • Preston, R.S., Philp, A., Claessens, T., Gijezen, L., Dydensborg, A.B., Dunlop, E.A., Harper, K.T., Brinkhuizen, T., Menko, F.H., Davies, D.M. et al. (2011) Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30, 1159-1173.
    • (2011) Oncogene , vol.30 , pp. 1159-1173
    • Preston, R.S.1    Philp, A.2    Claessens, T.3    Gijezen, L.4    Dydensborg, A.B.5    Dunlop, E.A.6    Harper, K.T.7    Brinkhuizen, T.8    Menko, F.H.9    Davies, D.M.10
  • 15
    • 78650839179 scopus 로고    scopus 로고
    • Inactivation of theFLCNtumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization
    • Hong, S.B., Oh, H., Valera, V.A., Baba, M., Schmidt, L.S., and Linehan, W.M. (2010) Inactivation of theFLCNtumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PLoS ONE, 5, e15793.
    • (2010) PLoS ONE , vol.5
    • Hong, S.B.1    Oh, H.2    Valera, V.A.3    Baba, M.4    Schmidt, L.S.5    Linehan, W.M.6
  • 16
    • 79957887216 scopus 로고    scopus 로고
    • Loss of the Birt-Hogg-Dube tumor suppressor results in apoptotic resistance due to aberrant TGFbeta-mediated transcription
    • Cash, T.P., Gruber, J.J., Hartman, T.R., Henske, E.P., and Simon, M.C. (2011) Loss of the Birt-Hogg-Dube tumor suppressor results in apoptotic resistance due to aberrant TGFbeta-mediated transcription. Oncogene, 30, 2534-2546.
    • (2011) Oncogene , vol.30 , pp. 2534-2546
    • Cash, T.P.1    Gruber, J.J.2    Hartman, T.R.3    Henske, E.P.4    Simon, M.C.5
  • 17
    • 84871580429 scopus 로고    scopus 로고
    • The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis
    • Gaur, K., Li, J., Wang, D., Dutta, P., Yan, S.J., Tsurumi, A., Land, H., Wu, G., and Li, W.X. (2013) The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Hum. Mol. Genet., 22, 284-299.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 284-299
    • Gaur, K.1    Li, J.2    Wang, D.3    Dutta, P.4    Yan, S.J.5    Tsurumi, A.6    Land, H.7    Wu, G.8    Li, W.X.9
  • 18
    • 33745819269 scopus 로고    scopus 로고
    • Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein
    • Esteban, M.A., Harten, S.K., Tran, M.G., and Maxwell, P.H. (2006) Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein. J. Am. Soc. Nephrol. JASN, 17, 1801-1806.
    • (2006) J. Am. Soc. Nephrol. JASN , vol.17 , pp. 1801-1806
    • Esteban, M.A.1    Harten, S.K.2    Tran, M.G.3    Maxwell, P.H.4
  • 19
    • 57649243069 scopus 로고    scopus 로고
    • The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway
    • Hartman, T.R., Liu, D., Zilfou, J.T., Robb, V., Morrison, T., Watnick, T., and Henske, E.P. (2009)The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum. Mol. Genet., 18, 151-163.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 151-163
    • Hartman, T.R.1    Liu, D.2    Zilfou, J.T.3    Robb, V.4    Morrison, T.5    Watnick, T.6    Henske, E.P.7
  • 20
    • 79953032655 scopus 로고    scopus 로고
    • Ciliogenesis: building the cell's antenna
    • Ishikawa, H., and Marshall, W.F. (2011) Ciliogenesis: building the cell's antenna. Nat. Rev. Mol. Cell Biol., 12, 222-234.
    • (2011) Nat. Rev. Mol. Cell Biol. , vol.12 , pp. 222-234
    • Ishikawa, H.1    Marshall, W.F.2
  • 21
    • 70349324257 scopus 로고    scopus 로고
    • The motile cilium in development and disease: emerging new insights
    • Roy, S. (2009) The motile cilium in development and disease: emerging new insights. BioEssays: News Rev. Mol. Cell. Dev. Biol., 31, 694-699.
    • (2009) BioEssays: News Rev. Mol. Cell. Dev. Biol. , vol.31 , pp. 694-699
    • Roy, S.1
  • 22
    • 44349116202 scopus 로고    scopus 로고
    • Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia
    • Patel, V., Li, L., Cobo-Stark, P., Shao, X., Somlo, S., Lin, F., and Igarashi, P. (2008) Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum. Mol. Genet., 17, 1578-1590.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 1578-1590
    • Patel, V.1    Li, L.2    Cobo-Stark, P.3    Shao, X.4    Somlo, S.5    Lin, F.6    Igarashi, P.7
  • 25
    • 70349906831 scopus 로고    scopus 로고
    • Planar cell polarity and the kidney
    • McNeill, H. (2009) Planar cell polarity and the kidney. J. Am. Soc. Nephrol. JASN, 20, 2104-2111.
    • (2009) J. Am. Soc. Nephrol. JASN , vol.20 , pp. 2104-2111
    • McNeill, H.1
  • 26
    • 77951727246 scopus 로고    scopus 로고
    • VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease
    • Montani, M., Heinimann, K., von Teichman, A., Rudolph, T., Perren, A., and Moch, H. (2010) VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. Am. J. Surg. Pathol., 34, 806-815.
    • (2010) Am. J. Surg. Pathol. , vol.34 , pp. 806-815
    • Montani, M.1    Heinimann, K.2    von Teichman, A.3    Rudolph, T.4    Perren, A.5    Moch, H.6
  • 28
    • 80855139808 scopus 로고    scopus 로고
    • Primary cilium depletion typifies cutaneous melanoma in situ and malignant melanoma
    • Kim, J., Dabiri, S., and Seeley, E.S. (2011) Primary cilium depletion typifies cutaneous melanoma in situ and malignant melanoma. PLoS ONE, 6, e27410.
    • (2011) PLoS ONE , vol.6
    • Kim, J.1    Dabiri, S.2    Seeley, E.S.3
  • 30
    • 84879284842 scopus 로고    scopus 로고
    • Coevolution reveals a network of human proteins originating with multicellularity
    • Bezginov, A., Clark, G.W., Charlebois, R.L., Dar, V.U., and Tillier, E.R. (2013) Coevolution reveals a network of human proteins originating with multicellularity. Mol. Biol. Evol. 30, 332-346.
    • (2013) Mol. Biol. E , vol.30 , pp. 332-346
    • Bezginov, A.1    Clark, G.W.2    Charlebois, R.L.3    Dar, V.U.4    Tillier, E.R.5
  • 33
    • 33645579696 scopus 로고    scopus 로고
    • Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dube syndrome
    • Kouchi, M., Okimoto, K., Matsumoto, I., Tanaka, K., Yasuba, M., and Hino, O. (2006) Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dube syndrome. Virchows Arch., 448, 463-471.
    • (2006) Virchows Arch. , vol.448 , pp. 463-471
    • Kouchi, M.1    Okimoto, K.2    Matsumoto, I.3    Tanaka, K.4    Yasuba, M.5    Hino, O.6
  • 36
    • 33749165120 scopus 로고    scopus 로고
    • The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance
    • Singh, S.R., Zhen, W., Zheng, Z., Wang, H., Oh, S.W., Liu, W., Zbar, B., Schmidt, L.S., and Hou, S.X. (2006) The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance. Oncogene, 25, 5933-5941.
    • (2006) Oncogene , vol.25 , pp. 5933-5941
    • Singh, S.R.1    Zhen, W.2    Zheng, Z.3    Wang, H.4    Oh, S.W.5    Liu, W.6    Zbar, B.7    Schmidt, L.S.8    Hou, S.X.9
  • 37
    • 79959353922 scopus 로고    scopus 로고
    • Ultrastructure of cilia and flagella - back to the future! Biol
    • Fisch, C., and Dupuis-Williams, P. (2011) Ultrastructure of cilia and flagella - back to the future! Biol. Cell, 103, 249-270.
    • (2011) Cell , vol.103 , pp. 249-270
    • Fisch, C.1    Dupuis-Williams, P.2
  • 39
    • 79953326597 scopus 로고    scopus 로고
    • The cilia protein IFT88 is required for spindle orientation in mitosis
    • Delaval, B., Bright, A., Lawson, N.D., and Doxsey, S. (2011) The cilia protein IFT88 is required for spindle orientation in mitosis. Nat. Cell Biol., 13, 461-468.
    • (2011) Nat. Cell Biol. , vol.13 , pp. 461-468
    • Delaval, B.1    Bright, A.2    Lawson, N.D.3    Doxsey, S.4
  • 40
    • 84864009034 scopus 로고    scopus 로고
    • The LKB1 tumor suppressor controls spindle orientation and localization of activated AMPK in mitotic epithelial cells
    • Wei, C., Bhattaram, V.K., Igwe, J.C., Fleming, E., and Tirnauer, J.S. (2012) The LKB1 tumor suppressor controls spindle orientation and localization of activated AMPK in mitotic epithelial cells. PLoS ONE, 7, e41118.
    • (2012) PLoS ONE , vol.7
    • Wei, C.1    Bhattaram, V.K.2    Igwe, J.C.3    Fleming, E.4    Tirnauer, J.S.5
  • 41
    • 77957198722 scopus 로고    scopus 로고
    • Quantitative image analysis identifiespVHLas a key regulator of microtubule dynamic instability
    • Thoma, C.R., Matov, A., Gutbrodt, K.L., Hoerner, C.R., Smole, Z., Krek, W., and Danuser, G. (2010) Quantitative image analysis identifiespVHLas a key regulator of microtubule dynamic instability. J. Cell Biol., 190, 991-1003.
    • (2010) J. Cell Biol. , vol.190 , pp. 991-1003
    • Thoma, C.R.1    Matov, A.2    Gutbrodt, K.L.3    Hoerner, C.R.4    Smole, Z.5    Krek, W.6    Danuser, G.7
  • 42
    • 0028010818 scopus 로고
    • HK-2: an immortalized proximal tubule epithelial cell line from normal adult human kidney
    • Ryan, M.J., Johnson, G., Kirk, J., Fuerstenberg, S.M., Zager, R.A., and Torok-Storb, B. (1994) HK-2: an immortalized proximal tubule epithelial cell line from normal adult human kidney. Kidney Int., 45, 48-57.
    • (1994) Kidney Int. , vol.45 , pp. 48-57
    • Ryan, M.J.1    Johnson, G.2    Kirk, J.3    Fuerstenberg, S.M.4    Zager, R.A.5    Torok-Storb, B.6
  • 44
    • 79957911385 scopus 로고    scopus 로고
    • Subcellular spatial regulation of canonical Wnt signalling at the primary cilium
    • Lancaster, M.A., Schroth, J., and Gleeson, J.G. (2011) Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat. Cell Biol., 13, 700-707.
    • (2011) Nat. Cell Biol. , vol.13 , pp. 700-707
    • Lancaster, M.A.1    Schroth, J.2    Gleeson, J.G.3
  • 45
    • 77955418239 scopus 로고    scopus 로고
    • Cystic kidney disease: the role of Wnt signaling
    • Lancaster, M.A., and Gleeson, J.G. (2010) Cystic kidney disease: the role of Wnt signaling. Trends Mol. Med., 16, 349-360.
    • (2010) Trends Mol. Med. , vol.16 , pp. 349-360
    • Lancaster, M.A.1    Gleeson, J.G.2
  • 46
    • 42049111410 scopus 로고    scopus 로고
    • Cell cycle-dependent ciliogenesis and cancer
    • Plotnikova, O.V., Golemis, E.A., and Pugacheva, E.N. (2008) Cell cycle-dependent ciliogenesis and cancer. Cancer Res., 68, 2058-2061.
    • (2008) Cancer Res. , vol.68 , pp. 2058-2061
    • Plotnikova, O.V.1    Golemis, E.A.2    Pugacheva, E.N.3
  • 47
    • 67650230896 scopus 로고    scopus 로고
    • Wnt/beta-catenin signaling: components, mechanisms, and diseases
    • MacDonald, B.T., Tamai, K., and He, X. (2009) Wnt/beta-catenin signaling: components, mechanisms, and diseases. Dev. Cell, 17, 9-26.
    • (2009) Dev. Cell , vol.17 , pp. 9-26
    • MacDonald, B.T.1    Tamai, K.2    He, X.3
  • 48
    • 79551587194 scopus 로고    scopus 로고
    • Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia
    • Wallingford, J.B., and Mitchell, B. (2011) Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev., 25, 201-213.
    • (2011) Genes Dev. , vol.25 , pp. 201-213
    • Wallingford, J.B.1    Mitchell, B.2
  • 49
    • 84867410018 scopus 로고    scopus 로고
    • Solid renal tumors of collecting duct origin in patients on chronic lithium therapy
    • Rookmaaker, M.B., van Gerven, H.A.J.M., Goldschmeding, R., and Boer, W.H. (2012) Solid renal tumors of collecting duct origin in patients on chronic lithium therapy. Clin. Kidney J., 5, 412-415.
    • (2012) Clin. Kidney J. , vol.5 , pp. 412-415
    • Rookmaaker, M.B.1    van Gerven, H.A.J.M.2    Goldschmeding, R.3    Boer, W.H.4
  • 50
    • 0031149476 scopus 로고    scopus 로고
    • Activation of the Wnt signaling pathway: a molecular mechanism for lithium action
    • Hedgepeth, C.M., Conrad, L.J., Zhang, J., Huang, H.C., Lee, V.M.and Klein, P.S. (1997) Activation of the Wnt signaling pathway: a molecular mechanism for lithium action. Dev. Biol., 185, 82-91.
    • (1997) Dev. Biol. , vol.185 , pp. 82-91
    • Hedgepeth, C.M.1    Conrad, L.J.2    Zhang, J.3    Huang, H.C.4    Lee, V.M.5    Klein, P.S.6
  • 52
    • 71549164067 scopus 로고    scopus 로고
    • Rab35-a vesicular traffic-regulating small GTPase with actin modulating roles
    • Chua, C.E., Lim, Y.S., and Tang, B.L. (2010) Rab35-a vesicular traffic-regulating small GTPase with actin modulating roles. FEBS Lett., 584, 1-6.
    • (2010) FEBS Lett. , vol.584 , pp. 1-6
    • Chua, C.E.1    Lim, Y.S.2    Tang, B.L.3
  • 54
    • 45249103326 scopus 로고    scopus 로고
    • BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports
    • Toro, J.R., Wei, M.H., Glenn, G.M., Weinreich, M., Toure, O., Vocke, C., Turner, M., Choyke, P., Merino, M.J., Pinto, P.A. et al. (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J. Med. Genet., 45, 321-331.
    • (2008) J. Med. Genet. , vol.45 , pp. 321-331
    • Toro, J.R.1    Wei, M.H.2    Glenn, G.M.3    Weinreich, M.4    Toure, O.5    Vocke, C.6    Turner, M.7    Choyke, P.8    Merino, M.J.9    Pinto, P.A.10
  • 57
    • 34249655697 scopus 로고    scopus 로고
    • Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases
    • Edelman, E.A., Girirajan, S., Finucane, B., Patel, P.I., Lupski, J.R., Smith, A.C., and Elsea, S.H. (2007) Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin. Genet., 71, 540-550.
    • (2007) Clin. Genet. , vol.71 , pp. 540-550
    • Edelman, E.A.1    Girirajan, S.2    Finucane, B.3    Patel, P.I.4    Lupski, J.R.5    Smith, A.C.6    Elsea, S.H.7
  • 58
    • 0037096906 scopus 로고    scopus 로고
    • The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the b-catenin signaling cascade
    • Albuquerque, C., Breukel, C., van der Luijt, R., Fidalgo, P., Lage, P., Slors, F.J.M., Leitão, C.N., Fodde, R., and Smits, R. (2002) The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the b-catenin signaling cascade. Hum. Mol. Genet., 11, 1549-1560.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1549-1560
    • Albuquerque, C.1    Breukel, C.2    van der Luijt, R.3    Fidalgo, P.4    Lage, P.5    Slors, F.J.M.6    Leitão, C.N.7    Fodde, R.8    Smits, R.9
  • 60
    • 70149095242 scopus 로고    scopus 로고
    • Blockade of Wnt signaling inhibits angiogenesis and tumor growth in hepatocellular carcinoma
    • Hu, J., Dong, A., Fernandez-Ruiz, V., Shan, J., Kawa, M., Martinez-Anso, E., Prieto, J., and Qian, C. (2009) Blockade of Wnt signaling inhibits angiogenesis and tumor growth in hepatocellular carcinoma. Cancer Res., 69, 6951-6959.
    • (2009) Cancer Res. , vol.69 , pp. 6951-6959
    • Hu, J.1    Dong, A.2    Fernandez-Ruiz, V.3    Shan, J.4    Kawa, M.5    Martinez-Anso, E.6    Prieto, J.7    Qian, C.8


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