Gene Review:
FLCN - folliculin
Homo sapiens
Synonyms:
BHD, BHD skin lesion fibrofolliculoma protein, Birt-Hogg-Dube syndrome protein, FLCL, Folliculin, ...
Schmidt,
Nickerson,
Warren,
Glenn,
Toro,
Merino,
Turner,
Choyke,
Sharma,
Peterson,
Morrison,
Maher,
Walther,
Zbar,
Linehan,
Drummond,
Grigoris,
Dutta,
Painter,
Tapanainen,
Somer,
Tukiainen,
Aittomäki,
Schmidt,
Warren,
Nickerson,
Weirich,
Matrosova,
Toro,
Turner,
Duray,
Merino,
Hewitt,
Pavlovich,
Glenn,
Greenberg,
Linehan,
Zbar,
Burgdorf,
Toro,
Glenn,
Duray,
Darling,
Weirich,
Zbar,
Linehan,
Turner,
- A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Painter, J.N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomäki, K. Am. J. Hum. Genet. (2005)
- Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Graham, R.B., Nolasco, M., Peterlin, B., Garcia, C.K. Am. J. Respir. Crit. Care Med. (2005)
- Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Schmidt, L.S., Nickerson, M.L., Warren, M.B., Glenn, G.M., Toro, J.R., Merino, M.J., Turner, M.L., Choyke, P.L., Sharma, N., Peterson, J., Morrison, P., Maher, E.R., Walther, M.M., Zbar, B., Linehan, W.M. Am. J. Hum. Genet. (2005)
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Baba, M., Hong, S.B., Sharma, N., Warren, M.B., Nickerson, M.L., Iwamatsu, A., Esposito, D., Gillette, W.K., Hopkins, R.F., Hartley, J.L., Furihata, M., Oishi, S., Zhen, W., Burke, T.R., Linehan, W.M., Schmidt, L.S., Zbar, B. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Familial spontaneous pneumothorax. Chiu, H.T., Garcia, C.K. Current opinion in pulmonary medicine. (2006)
- Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Schmidt, L.S., Warren, M.B., Nickerson, M.L., Weirich, G., Matrosova, V., Toro, J.R., Turner, M.L., Duray, P., Merino, M., Hewitt, S., Pavlovich, C.P., Glenn, G., Greenberg, C.R., Linehan, W.M., Zbar, B. Am. J. Hum. Genet. (2001)
- Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability. Shin, J.H., Shin, Y.K., Ku, J.L., Jeong, S.Y., Hong, S.H., Park, S.Y., Kim, W.H., Park, J.G. J. Med. Genet. (2003)
- A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Okimoto, K., Sakurai, J., Kobayashi, T., Mitani, H., Hirayama, Y., Nickerson, M.L., Warren, M.B., Zbar, B., Schmidt, L.S., Hino, O. Proc. Natl. Acad. Sci. U.S.A. (2004)
- 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., Hou, S.X. Oncogene (2006)
- Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Warren, M.B., Torres-Cabala, C.A., Turner, M.L., Merino, M.J., Matrosova, V.Y., Nickerson, M.L., Ma, W., Linehan, W.M., Zbar, B., Schmidt, L.S. Mod. Pathol. (2004)
- Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. Pavlovich, C.P., Grubb, R.L., Hurley, K., Glenn, G.M., Toro, J., Schmidt, L.S., Torres-Cabala, C., Merino, M.J., Zbar, B., Choyke, P., Walther, M.M., Linehan, W.M. J. Urol. (2005)
- Kinetics and mechanism of the addition of benzylamines to benzylidene-3,5-heptadione in acetonitrile. Oh, H.K., Lee, J.M., Sung, D.D., Lee, I. J. Org. Chem. (2005)
- Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome. Kawasaki, H., Sawamura, D., Nakazawa, H., Hattori, N., Goto, M., Sato-Matsumura, K.C., Akiyama, M., Shimizu, H. Br. J. Dermatol. (2005)
- Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Toro, J.R., Glenn, G., Duray, P., Darling, T., Weirich, G., Zbar, B., Linehan, M., Turner, M.L. Archives of dermatology. (1999)
- Expression of hypoxia inducible factor-1alpha and 2alpha in genetically distinct early renal cortical tumors. Kim, C.M., Vocke, C., Torres-Cabala, C., Yang, Y., Schmidt, L., Walther, M., Linehan, W.M. J. Urol. (2006)
- Inactivation of BHD in sporadic renal tumors. Khoo, S.K., Kahnoski, K., Sugimura, J., Petillo, D., Chen, J., Shockley, K., Ludlow, J., Knapp, R., Giraud, S., Richard, S., Nordenskjöld, M., Teh, B.T. Cancer Res. (2003)
- Enhanced soluble protein expression using two new fusion tags. Chatterjee, D.K., Esposito, D. Protein Expr. Purif. (2006)
- Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dubé syndrome. Ubogy-Rainey, Z., James, W.D., Lupton, G.P., Rodman, O.G. J. Am. Acad. Dermatol. (1987)
- Cancer-associated genodermatoses: a personal history. Burgdorf, W.H. Exp. Dermatol. (2006)
- Birt-Hogg-Dubé syndrome and multinodular goitre. Drummond, C., Grigoris, I., Dutta, B. Australas. J. Dermatol. (2002)
- Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules. Vincent, A., Farley, M., Chan, E., James, W.D. J. Am. Acad. Dermatol. (2003)
- Free radicals and oxidative stress challenge dialysis patients: effects of two different membranes. Biasioli, S., Schiavon, R., Petrosino, L., Cavallini, L., Zambello, A., De Fanti, E., Giavarina, D. ASAIO journal (American Society for Artificial Internal Organs : 1992) (1997)