Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, & Izatt L. (2011) Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?. Journal of medical genetics. PMID: 21429933  

Sempau L, Ruiz I, González-Morán A, Susanna X, & Hansen TV. (2010) [New mutation in the Birt Hogg Dube gene]. Actas dermo-sifiliograficas, 101(7), 637-40. PMID: 20858390  

Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA.... (2011) Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes, chromosomes , 50(6), 466-77. PMID: 21412933  

Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407  

Geng H, Harvey CT, Pittsenbarger J, Liu Q, Beer TM, Xue C, & Qian DZ. (2011) HDAC4 regulates HIF1{alpha} lysine acetylation and cancer cell response to hypoxia. The Journal of biological chemistry. PMID: 21917920  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Qian DZ, Kachhap SK, Collis SJ, Verheul HM, Carducci MA, Atadja P, & Pili R. (2006) Class II histone deacetylases are associated with VHL-independent regulation of hypoxia-inducible factor 1 alpha. Cancer research, 66(17), 8814-21. PMID: 16951198  

Adam J, Hatipoglu E, O'Flaherty L, Ternette N, Sahgal N, Lockstone H, Baban D, Nye E, Stamp GW, Wolhuter K.... (2011) Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer cell, 20(4), 524-37. PMID: 22014577  

Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, Min BW, Tan MH, Zhang Z, Yang XJ.... (2011) An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Cancer cell, 20(4), 511-23. PMID: 22014576  

Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Lu, X., Wei, W., Fenton, J., Nahorski, M., Rabai, E., Reiman, A., Seabra, L., Nagy, Z., Latif, F., & Maher, E. (2011) Therapeutic Targeting the Loss of the Birt-Hogg-Dube Suppressor Gene. Molecular Cancer Therapeutics, 10(1), 80-89. DOI: 10.1158/1535-7163.MCT-10-0628  

Maher, E. (2011) Genetics of Familial Renal Cancers. Nephron Experimental Nephrology, 118(1). DOI: 10.1159/000320892  

Nahorski, M., Lim, D., Martin, L., Gille, J., McKay, K., Rehal, P., Ploeger, H., van Steensel, M., Tomlinson, I., Latif, F.... (2010) Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. Journal of Medical Genetics, 47(6), 385-390. DOI: 10.1136/jmg.2009.073304  

Lim, D., Rehal, P., Nahorski, M., Macdonald, F., Claessens, T., Van Geel, M., Gijezen, L., Gille, J., Giraud, S., Richard, S.... (2010) A new locus-specific database (LSDB) for mutations in the folliculin ( ) gene . Human Mutation, 31(1). DOI: 10.1002/humu.21130  

Woodward, E., Ricketts, C., Killick, P., Gad, S., Morris, M., Kavalier, F., Hodgson, S., Giraud, S., Bressac-de Paillerets, B., Chapman, C.... (2008) Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN. Clinical Cancer Research, 14(18), 5925-5930. DOI: 10.1158/1078-0432.CCR-08-0608  

Kim JH, Kononenko A, Erliandri I, Kim TA, Nakano M, Iida Y, Barrett JC, Oshimura M, Masumoto H, Earnshaw WC.... (2011) Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. Proceedings of the National Academy of Sciences of the United States of America, 108(50), 20048-53. PMID: 22123967  

Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J.... (2008) Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. The New England journal of medicine, 358(2), 140-51. PMID: 18184959  

Dabora SL, Franz DN, Ashwal S, Sagalowsky A, DiMario FJ Jr, Miles D, Cutler D, Krueger D, Uppot RN, Rabenou R.... (2011) Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PloS one, 6(9). PMID: 21915260  

Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, Watson PC, Howe CJ, Doyle T, Pointon K.... (2011) Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clinical cancer research : an official journal of the American Association for Cancer Research, 17(12), 4071-81. PMID: 21525172  

Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, & Franz DN. (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. The New England journal of medicine, 363(19), 1801-11. PMID: 21047224  

McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM.... (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364(17), 1595-606. PMID: 21410393  

Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407  

Hartman TR, Nicolas E, Klein-Szanto A, Al-Saleem T, Cash TP, Simon MC, & Henske EP. (2009) The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene, 28(13), 1594-604. PMID: 19234517  

Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2011) Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair. PMID: 22209521  

Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011. (2011) [No authors listed] . Familial cancer. PMID: 21506000  

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER. (2011) Birt Hogg-Dubé syndrome associated FLCN mutations disrupt protein stability. Human Mutation. DOI: 10.1002/humu.21519  

Reuter CW, Morgan MA, & Bergmann L. (2000) Targeting the Ras signaling pathway: a rational, mechanism-based treatment for hematologic malignancies?. Blood, 96(5), 1655-69. PMID: 10961860  

Wong SP, Argyros O, Coutelle C, & Harbottle RP. (2011) Non-viral S/MAR vectors replicate episomally in vivo when provided with a selective advantage. Gene therapy, 18(1), 82-7. PMID: 20739959  

Wong SP, Argyros O, Howe SJ, & Harbottle RP. (2011) Systemic gene transfer of polyethylenimine (PEI)-plasmid DNA complexes to neonatal mice. Journal of controlled release : official journal of the Controlled Release Society, 150(3), 298-306. PMID: 21192993  

Argyros O, Wong SP, Fedonidis C, Tolmachov O, Waddington SN, Howe SJ, Niceta M, Coutelle C, & Harbottle RP. (2011) Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver. Journal of molecular medicine (Berlin, Germany), 89(5), 515-29. PMID: 21301798  

Dunlop EA, Dodd KM, Land SC, Davies PA, Martins N, Stuart H, McKee S, Kingswood C, Saggar A, Corderio I.... (2011) Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. European journal of human genetics : EJHG. PMID: 21407264  

Dunlop EA, Hunt DK, Acosta-Jaquez HA, Fingar DC, & Tee AR. (2011) ULK1 inhibits mTORC1 signaling, promotes multisite Raptor phosphorylation and hinders substrate binding. Autophagy, 7(7). PMID: 21460630  

Dunlop EA, & Tee AR. (2009) Mammalian target of rapamycin complex 1: signalling inputs, substrates and feedback mechanisms. Cellular signalling, 21(6), 827-35. PMID: 19166929  

Land SC, & Tee AR. (2007) Hypoxia-inducible factor 1alpha is regulated by the mammalian target of rapamycin (mTOR) via an mTOR signaling motif. The Journal of biological chemistry, 282(28), 20534-43. PMID: 17502379  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Xu X, Hou Y, Yin X, Bao L, Tang A, Song L, Li F, Tsang S, Wu K, Wu H.... (2012) Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell, 148(5), 886-95. PMID: 22385958  

Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J.... (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature, 469(7331), 539-42. PMID: 21248752  

Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-3. PMID: 20054297  

Guo G, Gui Y, Gao S, Tang A, Hu X, Huang Y, Jia W, Li Z, He M, Sun L.... (2011) Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nature genetics, 44(1), 17-9. PMID: 22138691  

Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S.... (2003) Inactivation of BHD in sporadic renal tumors. Cancer research, 63(15), 4583-7. PMID: 12907635  

Morris MR, & Maher ER. (2010) Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics. Genome medicine, 2(9), 59. PMID: 20815920  

Ricketts CJ, Morris MR, Gentle D, Brown M, Wake N, Woodward ER, Clarke N, Latif F, & Maher ER. (2012) Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma. Epigenetics : official journal of the DNA Methylation Society, 7(3), 278-90. PMID: 22430804  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Barliya T, Mandel M, Livnat T, Weinberger D, & Lavie G. (2011) Degradation of HIF-1alpha under hypoxia combined with induction of Hsp90 polyubiquitination in cancer cells by hypericin: a unique cancer therapy. PloS one, 6(9). PMID: 21949677  

Blank M, Mandel M, Keisari Y, Meruelo D, & Lavie G. (2003) Enhanced ubiquitinylation of heat shock protein 90 as a potential mechanism for mitotic cell death in cancer cells induced with hypericin. Cancer research, 63(23), 8241-7. PMID: 14678981  

Kong X, Lin Z, Liang D, Fath D, Sang N, & Caro J. (2006) Histone deacetylase inhibitors induce VHL and ubiquitin-independent proteasomal degradation of hypoxia-inducible factor 1alpha. Molecular and cellular biology, 26(6), 2019-28. PMID: 16507982  

Isaacs JS, Jung YJ, Mimnaugh EG, Martinez A, Cuttitta F, & Neckers LM. (2002) Hsp90 regulates a von Hippel Lindau-independent hypoxia-inducible factor-1 alpha-degradative pathway. The Journal of biological chemistry, 277(33), 29936-44. PMID: 12052835  

Schietke RE, Hackenbeck T, Tran M, Günther R, Klanke B, Warnecke CL, Knaup KX, Shukla D, Rosenberger C, Koesters R.... (2012) Renal Tubular HIF-2α Expression Requires VHL Inactivation and Causes Fibrosis and Cysts. PloS one, 7(1). PMID: 22299048  

Rosenberger C, Mandriota S, Jürgensen JS, Wiesener MS, Hörstrup JH, Frei U, Ratcliffe PJ, Maxwell PH, Bachmann S, & Eckardt KU. (2002) Expression of hypoxia-inducible factor-1alpha and -2alpha in hypoxic and ischemic rat kidneys. Journal of the American Society of Nephrology : JASN, 13(7), 1721-32. PMID: 12089367  

Adam J, Hatipoglu E, O'Flaherty L, Ternette N, Sahgal N, Lockstone H, Baban D, Nye E, Stamp GW, Wolhuter K.... (2011) Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer cell, 20(4), 524-37. PMID: 22014577  

Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, Min BW, Tan MH, Zhang Z, Yang XJ.... (2011) An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Cancer cell, 20(4), 511-23. PMID: 22014576  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536  

Raval RR, Lau KW, Tran MG, Sowter HM, Mandriota SJ, Li JL, Pugh CW, Maxwell PH, Harris AL, & Ratcliffe PJ. (2005) Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma. Molecular and cellular biology, 25(13), 5675-86. PMID: 15964822  

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174  

Gaur K, Li J, Wang D, Dutta P, Yan SJ, Tsurumi A, Land H, Wu G, & Li WX. (2012) The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Human molecular genetics. PMID: 23077212  

Mekhail K, Gunaratnam L, Bonicalzi ME, & Lee S. (2004) HIF activation by pH-dependent nucleolar sequestration of VHL. Nature cell biology, 6(7), 642-7. PMID: 15181450  

Mekhail K, Rivero-Lopez L, Khacho M, & Lee S. (2006) Restriction of rRNA synthesis by VHL maintains energy equilibrium under hypoxia. Cell cycle (Georgetown, Tex.), 5(20), 2401-13. PMID: 17102617  

Thomas G. (2000) An encore for ribosome biogenesis in the control of cell proliferation. Nature cell biology, 2(5). PMID: 10806485  

Komori K, Takagi Y, Sanada M, Lim TH, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2009) A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28(8), 1142-50. PMID: 19137017  

Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2011) Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair. PMID: 22209521  

Tong WH, Sourbier C, Kovtunovych G, Jeong SY, Vira M, Ghosh M, Romero VV, Sougrat R, Vaulont S, Viollet B.... (2011) The Glycolytic Shift in Fumarate-Hydratase-Deficient Kidney Cancer Lowers AMPK Levels, Increases Anabolic Propensities and Lowers Cellular Iron Levels. Cancer cell, 20(3), 315-27. PMID: 21907923  

Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978  

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536