Agarwal PP, Gross BH, Holloway BJ, Seely J, Stark P, Kazerooni EA (2011). Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR Am J Roentgenol, 196 (2), 349-52 [PMID: 21257886] [BHD Article Library]
Aivaz O, Berkman S, Middelton L, Linehan WM, DiGiovanna JJ, Cowen EW (2015). Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. JAMA Dermatol. May 13. [PMID: 25970555]
Alers S, Löffler AS, Wesselborg S, Stork B (2012). Role of AMPK-mTOR-Ulk1/2 in the regulation of autophagy: cross talk, shortcuts, and feedbacks. Molecular and cellular biology, 32 (1), 2-11 [PMID: 22025673] [Free Full Text]
Alonso-González J, Rodríguez-Pazos L, Fernández-Redondo V, Vega-Gliemmo A, Toribio J (2011). Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. Int J Dermatol, 50 (8), 968-71 [PMID: 21781069]
Ardilouze P, Jacquin J, Ait Ali T, Schneider S (2014). Birt-Hogg-Dubé syndrome: A little known cause of pulmonary cysts. Diagn Interv Imaging pii: S2211-5684(14)00199-5. [PMID: 25022726]
Attinà D, Ciccarese F, Mughetti M, Rocca A, Contini P, Zompatori M. (2013) When the chest is clueless, look downstairs. Monaldi Arch Chest Dis, 79 (1), 49-50 [PMID: 23741947]
Auerbach A, Roberts DH, Gangadharan SP, Kent MS (2014). Birt-hogg-dubé syndrome in a patient presenting with familial spontaneous pneumothorax. The Annals of thoracic surgery, 98 (1), 325-7 [PMID: 24996715]
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B (2006). Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci USA, 103 (42), 15552-7 [PMID: 17028174] [BHD Article Library]
Baba M, Furihata M, Hong SB, Tessarollo L, Haines DC, Southon E, Patel V, Igarashi P, Alvord WG, Leighty R, Yao M, Bernardo M, Ileva L, Choyke P, Warren MB, Zbar B, Linehan WM, Schmidt LS (2008). Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst, 100 (2), 140-54 [PMID: 18182616] [BHD Article Library]
Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R (2012). The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development. Blood, 120 (6), 1254-61 [PMID: 22709692] [BHD Article Library]
Bae H-J, Woo OH, Yong HS, Kang E-Y, Kim HK, Choi YH, Shin BK, Kim YK (2011). Spontaneous Pneumothorax in Birt-Hogg-Dube Syndrome: Two Case Reports. J Korean Soc Radiol, 64, 39-43 [BHD Article Library]
Bastola P, Stratton Y, Kellner E, Mikhaylova O, Yi Y, Sartor MA, Medvedovic M, Biesiada J, Meller J, Czyzyk-Krzeska MF. (2013) Folliculin Contributes to VHL Tumor Suppressing Activity in Renal Cancer through Regulation of Autophagy. PloS one, 8 (7), e70030 [PMID: 23922894] [BHD Article Library]
Behrends C, Sowa ME, Gygi SP, Harper JW (2010). Network organization of the human autophagy system. Nature, 466 (7302), 68-76 [PMID: 20562859] [BHD Article Library]
Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA, Linehan WM (2011). Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer, 50 (6), 466-77 [PMID: 21412933] [BHD Article Library]
Benusiglio, P., Gad, S., Massard, C., Carton, E., Longchampt, E., Faudot, T., Lamoril, J., Ferlicot, S. (2014). Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome. F1000Research [PMID: 25254107] [BHD Article Library]
Benusiglio, P., Giraud, S., Deveaux, S., Méjean, A., Correas, J., Joly, D., Timsit, M., Ferlicot, S., Verkarre, V., Abadie, C., Chauveau, D., Leroux, D., Avril, M., Cordier, J., Richard, S. (2014b). Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]
Bessis D, Giraud S, Richard S (2006). A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol, 155 (5), 1067-9 [PMID: 17034545]
Betschinger J, Nichols J, Dietmann S, Corrin PD, Paddison PJ, Smith A. (2013) Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3. Cell, 153 (2), 335-47 [PMID: 23582324] [BHD Article Library]
Bhardwaj H, Bhardwaj B (2013). Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. Lung India, 30 (4), 372-3 [BHD Article Library]
Birt AR, Hogg GR, Dubé WJ (1977). Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]
Bondavalli D, White SM, Steer A, Pflaumer A, Winship I. Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? Am J Med Genet A. 2015 Feb 5 [PMID: 25655561]
Bønsdorff TB, Jansen JH, Lingaas F (2008). Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs. Mamm Genome, 19 (2), 121-6 [PMID: 18219524]
Bønsdorff TB, Jansen JH, Thomassen RF, Lingaas F (2009). Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis. Mamm Genome, 20 (5), 315-20 [PMID: 19387735]
Bradley M, Nordfors C, Vlastos A, Ferrara G, Ramqvist T, & Dalianis T (2014). No association between Birt-Hogg-Dubé syndrome skin fibrofolliculomas and the first 10 described human polyomaviruses or human papillomaviruses. Virology, 468-470C, 244-247 [PMID: 25194921]
Brehmer F, Seitz CS, Schwarz A, Engelke C, Haenssle HA, Schön MP, Emmert S. (2013) Dermatological features identifying a new family with the cancer-prone Birt-Hogg-Dubé syndrome. Clin Exp Dermatol, 38 (8):931-2 [PMID: 23659786]
Byrne M, Mallipeddi R, Pichert G, Whittaker S (2012). Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. Australas J Dermatol, 53 (2), 151-4 [PMID: 22571569]
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] [BHD Article Library]
Chen J, Futami K, Petillo D, Peng J, Wang P, Knol J, Li Y, Khoo SK, Huang D, Qian CN, Zhao P, Dykema K, Zhang R, Cao B, Yang XJ, Furge K, Williams BO, Teh BT. (2008) Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PloS one, 3 (10), e3581 [PMID: 18974783] [BHD Article Library]
Chen J, Huang D, Rubera I, Futami K, Wang P, Zickert P, Khoo SK, Dykema K, Zhao P, Petillo D, Cao B, Zhang Z, Si S, Schoen SR, Yang XJ, Zhou M, Xiao GQ, Wu G, Nordenskjöld M, Tauc M, Williams BO, Furge KA, Teh BT (2015). Disruption of tubular Flcn expression as a mouse model for renal tumor induction. Kidney Int. Jun 17. [PMID: 26083655]
Cho MH, Klanderman BJ, Litonjua AA, Sparrow D, Silverman EK, Raby BA. (2008) Folliculin mutations are not associated with severe COPD. BMC Med Genet, 120 [PMID: 19116017] [BHD Article Library]
Claessens T, Vernooij M, Luijten M, Coull BJ, van Steensel MAM (2012). What’s new in Birt-Hogg-Dubé syndrome? Expert Rev Dermatol, 7 (6), 521-8 [doi: 10.1586/edm.12.62]
Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, van Steensel MA. (2010) Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol, 7 (10), 583-7 [PMID: 20842188]
Cocciolone RA, Crotty KA, Andrews L, Haass NK, Moloney FJ. (2010) Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility. Arch Dermatol, 146 (11), 1316-8 [PMID: 21079084]
Dal Sasso AA, Belém LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, Guimarães MD, Marchiori E. Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. Respir Med. 2014 Dec 9. pii: S0954-6111(14)00415-6 [PMID: 25519092]
Danielsen JM, Sylvestersen KB, Bekker-Jensen S, Szklarczyk D, Poulsen JW, Horn H, Jensen LJ, Mailand N, Nielsen ML. (2011) Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Mol Cell Proteomics, 10 (3), M110.003590 [PMID: 21139048] [BHD Article Library]
De Conti L, Akinyi MV, Mendoza-Maldonado R, Romano M, Baralle M, Buratti E (2015). TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways. Nucleic Acids Res. 43(18):8990-9005. [PMID: 26261209]
De Keyzer L, De Leenheer EM, Claes K, Janssens S (2014). A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. Genetic counseling (Geneva, Switzerland), 25 (2), 203-8 [PMID: 25059020]
De la Torre C, Ocampo C, Doval IG, Losada A, Cruces MJ. (1999) Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature. Am J Dermatopathol, 21 (4), 369-74 [PMID: 10446780]
den Dunnen JT, Antonarakis SE. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat, 15 (1), 7-12 [PMID: 10612815] [Free full text]
Dephoure N, Zhou C, Villén J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP. (2008) A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci USA, 105 (31), 10762-7 [PMID: 18669648] [BHD Article Library]
Ding Y, Zhu C, Zou W, Ma D, Min H, Chen B, Ye M, Pan Y, Cao L, Wan Y, Zhang W,Meng L, Mei Y, Yang C, Chen S, Gao Q, Yi L (2015) . FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. Am J Med Genet A. 167(5):1125-33 [PubMed PMID: 2580793]
Dodding MP, Mitter R, Humphries AC, Way M. (2011) A kinesin-1 binding motif in vaccinia virus that is widespread throughout the human genome. EMBO J, 30 (22), 4523-38 [PMID: 21915095] [BHD Article Library]
Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ, Murray JT, van Steensel MA, Wilkinson S, & Tee AR (2014). FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10 (10) [PMID: 25126726]
Edgar RC. (2004) MUSCLE: a multiple sequence alignment method with reduced time and space complexity. BMC Bioinformatics, 5, 113 [PMID: 15318951]
Escuissato DL, de Almeida Teixeira BC, Warszwiak D, Zanetti G, Marchiori E (2014). Renal tumor associated with pulmonary cysts: Birt-Hogg-Dube syndrome. QJM, 107 (10), 851-2 [PMID: 24599809] [BHD Article Library]
Fabre A, Borie R, Debray MP, Crestani B, Danel C (2013). Distinguishing histological and radiological features between pulmonary cystic lung disease in Birt-Hogg-Dubé Syndrome and tobacco-related spontaneous pneumothorax. Histopathology, 64 (5),741-9 [PMID: 24168179]
Fahmy W, Safwat AS, Bissada NK, Curry N, Guirguis N, Clarke HS, Fraig M, Finkbeiner A. (2007) Multiple/bilateral renal tumors in patients with Birt-Hogg-Dubé syndrome. Int Urol Nephrol, 39 (4), 995-9 [PMID: 17211573]
Fátyol K, Grummt I. (2008) Proteasomal ATPases are associated with rDNA: the ubiquitin proteasome system plays a direct role in RNA polymerase I transcription. Biochim Biophys Acta, 1779 (12), 850-9 [PMID: 18804559]
Felton SJ, Madan V. (2012) Facial and upper body papules in a patient with a family history of recurrent pneumothorax. JAMA, 308 (24), 2622-3 [PMID: 23268521] [BHD Article Library]
Ferreira Francisco FA, Soares Souza A Jr, Zanetti G, Marchiori E (2015). Multiple cystic lung disease. Eur Respir Rev. 24(138):552-64. [PMID: 26621970]
Fröhlich BA, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, Russi EW. (2008) Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J, 32 (5), 1316-20 [PMID: 18579543] [BHD Article Library]
Fuertes I, Mascaró-Galy JM, Ferrando J. (2009) Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene. Actas Dermosifiliogr, 100 (3), 227-30 [PMID: 19457309] [BHD Article Library]
Fujita WH, Barr RJ, Headley JL. (1981) Multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 117 (1), 32-5 [PMID: 7458379]
Furuya M, Hong SB, Tanaka R, Kuroda N, Nagashima Y, Nagahama K, Suyama T, Yao M, Nakatani Y. Distinctive Expression Patterns of GPNMB and Folliculin in Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome. Cancer Sci. 2015 Jan 8. doi: 10.1111/cas.12601. [Epub ahead of print] [PubMed PMID: 25594584]
Furuya M, Nakatani Y. (2013) Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol, 66 (3), 178-86 [PMID: 23223565] [BHD Article Library]
Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N, Moritani S, Mizuno H, Nagashima Y, Nagahama K, Hiroshima K, Yoshino I, Nomura F, Aoki I, & Nakatani Y. (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. Am J Surg Pathol, 36 (4), 589-600 [PMID: 22441547]
Gad S, Lefèvre SH, Khoo SK, Giraud S, Vieillefond A, Vasiliu V, Ferlicot S, Molinié V, Denoux Y, Thiounn N, Chrétien Y, Méjean A, Zerbib M, Benoît G, Hervé JM, Allègre G, Bressac-de Paillerets B, Teh BT, Richard S (2007). Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma. Br J Cancer, 96 (2), 336-40 [PMID: 17133269] [BHD Article Library]
Gambichler T, Wolter M, Altmeyer P, Hoffman K. (2000) Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. J Am Acad Dermatol, 43 (5 Pt 1), 856-8 [PMID: 11050594]
Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G. (2009) Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. Hum Pathol, 40 (12), 1813-9 [PMID: 19733897]
Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S. (2009) Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem, 81 (11), 4493-501 [PMID: 19413330]
Gaur K, Li J, Wang D, Dutta P, Yan SJ, Tsurumi A, Land H, Wu G, Li WX. (2013) The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Hum Mol Genet, 22 (2), 284-99 [PMID: 23077212]
Ge and Lowe (2016). Not just a cosmetic problem: facial papules in Birt-Hogg-Dubé syndrome. Med J Aust. 204(1):28-9. [PMID: 26763815]
Gharbi H, Fabretti F, Bharill P, Rinschen MM, Brinkkötter S, Frommolt P, Burst V, Schermer B, Benzing T, Müller RU. (2013) Loss of the Birt-Hogg-Dubé gene product folliculin induces longevity in a hypoxia-inducible factor-dependent manner. Aging cell, 12 (4), 593-603 [PMID: 23566034]
Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, van Steensel MA (2014). Topical rapamycin as a treatment for fibrofolliculomas in birt-hogg-dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PloS one, 9 (6) [PMID: 24910976] [BHD Article Library]
Godbolt AM, Robertson IM, Weedon D. (2003) Birt-Hogg-Dubé syndrome. Australas J Dermatol, 44 (1), 52-6 [PMID: 12581083]
Gomi H, Mori K, Itohara S, Izumi T. (2007) Rab27b is expressed in a wide range of exocytic cells and involved in the delivery of secretory granules near the plasma membrane. Mol Biol Cell, 18 (11), 4377-86 [PMID: 17761531] [Full free text]
Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM, Gow AJ, Margulies S, Guttentag S, Schmidt LS, Krymskaya VP (2014). Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell reports, 7 (2), 412-23 [PMID: 24726356] [BHD Article Library]
Gorospe L, Ayala-Carbonero AM, Fernández-Méndez MÁ (2015). Retrospective diagnosis of Birt-Hogg-Dubé syndrome in a 74-year-old male: The importance of imaging. Rev Clin Esp. pii: S0014-2565(15)00268-4. [PMID: 26653075]
Graham RB, Nolasco M, Peterlin B, Garcia CK. (2005) Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med, 172 (1), 39-44 [PMID: 15805188] [BHD Article Library]
Guda K, Veigl ML, Varadan V, Nosrati A, Ravi L, Lutterbaugh J, Beard L, Willson JK, Sedwick WD, Wang ZJ, Molyneaux N, Miron A, Adams MD, Elston RC, Markowitz SD, Willis JE. Novel recurrently mutated genes in African American colon cancers. Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1149-54.[PMID: 25583493]
Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K. (2007) Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet, 44 (9), 588-93 [PMID: 17496196] [BHD Article Library]
Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX (2015). Diffuse Cystic Lung Disease. Part II. Am J Respir Crit Care Med. Jul 1;192(1):17-29. [PMID: 25906201]
Gwinn DM, Shackelford DB, Egan DF, Mihaylova MM, Mery A, Vasquez DS, Turk BE, Shaw RJ. (2008) AMPK phosphorylation of raptor mediates a metabolic checkpoint. Mol Cell, 30 (2), 214-26 [PMID: 18439900] [Free full text]
Ha D, Yadav R, Mazzone PJ (2015). Cystic lung disease: systematic, stepwise diagnosis. Cleve Clin J Med. 82(2):115-27. [PMID: 25897602]
Happle R. (2012) Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. Am J Med Genet A, 158A (6), 1247-51 [PMID: 22581760]
Harris TE, Lawrence JC Jr. (2003) TOR signaling. Sci STKE, (212), re15 [PMID: 14668532]
Harrison DA. (2012) The Jak/STAT pathway. Cold Spring Harb Perspect Biol, 4 (3), pii: a011205 [PMID: 22383755] [Free full text]
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] [BHD Article Library]
Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M (2015). Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome. Int J Urol. [PMID: 26608100]
Hasumi H, Baba M, Hasumi Y, Lang M, Huang Y, Oh HF, Matsuo M, Merino MJ, Yao M, Ito Y, Furuya M, Iribe Y, Kodama T, Southon E, Tessarollo L, Nagashima K,Haines DC, Linehan WM, Schmidt LS. Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1624-31 [PMID: 25775561]
Hasumi H, Baba M, Hasumi Y, Huang Y, Oh H, Hughes RM, Klein ME, Takikita S, Nagashima K, Schmidt LS, Linehan WM (2012). Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN. J Natl Cancer Inst, 104 (22), 1750-64 [PMID: 23150719]
Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, Schmidt LS. (2008) Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415 (1-2), 60-7 [PMID: 18403135] [BHD Article Library]
Hasumi Y, Baba M, Ajima R, Hasumi H, Valera VA, Klein ME, Haines DC, Merino MJ, Hong SB, Yamaguchi TP, Schmidt LS, Linehan WM (2009). Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci USA, 106 (44), 18722-7 [PMID: 19850877] [BHD Article Library]
Hasumi Y, Baba M, Hasumi H, Huang Y, Lang M, Reindorf R, Oh HB, Sciarretta S, Nagashima K, Haines DC, Schneider MD, Adelstein RS, Schmidt LS, Sadoshima J, Marston Linehan W (2014). Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Hum Mol Genet, 23 (21), 5706-19 [PMID: 24908670]
Hay N, Sonenberg N. (2004) Upstream and downstream of mTOR. Genes Dev, 18 (16), 1926-45 [PMID: 15314020] [Full free text]
Hayashi M, Takayanagi N, Ishiguro T, Sugita Y, Kawabata Y, Fukuda Y. (2010) Birt-Hogg-Dubé syndrome with multiple cysts and recurrent pneumothorax: pathological findings. Intern Med, 49 (19), 2137-42 [PMID: 20930443] [BHD Article Library]
Hong SB, Oh H, Valera VA, Stull J, Ngo DT, Baba M, Merino MJ, Linehan WM, Schmidt LS. (2010a) Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Molecular Cancer, 9, 160 [PMID: 20573232] [BHD Article Library]
Hong SB, Oh H, Valera VA, Baba M, Schmidt LS, Linehan WM. (2010b) Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PloS one, 5 (12), e15793 [PMID: 21209915] [BHD Article Library]
Hopkins TG, Maher ER, Reid E, Marciniak SJ. (2011) Recurrent pneumothorax. Lancet, 377 (9777), 1624 [PMID: 21550484]
Hornstein OP. (1976) Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet, 33 (2), 193-7 [PMID: 939573]
Hornstein OP, Knickenberg M. (1975) Perifollicular fibromatosis cutis with polyps of the colon–a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res, 253 (2), 161-75 [PMID: 1200700]
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH (2011). Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]
Hsu RJ, Ho JY, Cha TL, Yu DS, Wu CL, Huang WP, Chu P, Chen YH, Chen JT, Yu CP (2012). WNT10A plays an oncogenic role in renal cell carcinoma by activating WNT/β-catenin pathway. PloS one, 7 (10), e47649 [PMID: 23094073] [Free full text]
Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, Pause A. (2010) Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. J Med Genet, 47 (3), 182-9 [PMID: 19843504]
Imada K, Dainichi T, Yokomizo A, Tsunoda T, Song YH, Nagasaki A, Sawamura D, Nishie W, Shimizu H, Fukagawa S, Urabe K, Furue M, Hashimoto T, Naito S (2009). Birt-Hogg-Dubé syndrome with clear-cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation. Br J Dermatol, 160 (6), 1350-3 [PMID: 19416240]
Inoki K, Zhu T, Guan KL. (2003) TSC2 mediates cellular energy response to control cell growth and survival. Cell, 115 (5), 577-90 [PMID: 14651849] [Free full text]
Iribe Y, Kuroda N, Nagashima Y, Yao M, Tanaka R, Gotoda H, Kawakami F, Imamura Y, Nakamura Y, Ando M, Araki A, Matsushima J, Nakatani Y, & Furuya M (2015). Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé Syndrome. Pathology international [PMID: 25597876]
Ishii H, Oka H, Amemiya Y, Iwata A, Otani S, Kishi K, Shirai R, Tokimatsu I, Kawahara K, Kadota J. (2009) A Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome. Intern Med, 48 (16), 1413-7 [PMID: 19687589] [BHD Article Library]
Jandaghi A, Daliri S, Kikkawa M, Khaledi M, Soleimanifar N, Alizadeh A, Habibzadeh M, Haghi-Ashtiani MT, Seyama K, Rezaei N. (2013) The discovery of a Persian family with a form of Birt-Hogg-Dubé syndrome lacking the typical cutaneous stigmata of the syndrome. Clin Imaging, 37 (1), 111-5 [PMID: 23206616] [BHD Article Library]
Janitzky A, Reiher F, Porsch M, Grube C, Evert M, Liehr UB. (2008) An unusual case of Birt-Hogg-Dube syndrome with renal involvement. Urol J, 5 (4), 272-4 [PMID: 19101904] [BHD Article Library]
Jarrett R, Walker L, Side L, Bowling J. (2009) Dermoscopic features of Birt-Hogg-Dube syndrome. Arch Dermatol, 145 (10), 1208 [PMID: 19841421]
Jeanes A, Gottardi CJ, Yap AS. (2008) Cadherins and cancer: how does cadherin dysfunction promote tumor progression? Oncogene, 27 (55), 6920-9 [PMID: 19029934] [Free full text]
Johannesma PC, Reinhard R, Kon Y, Sriram JD, Smit HJ, van Moorselaar RJ, Menko FH, Postmus PE; Amsterdam BHD working group (2015). Prevalence of Birt-Hogg-Dubé syndrome in patients with apparently primary spontaneous pneumothorax. Eur Respir J. 45(4):1191-4. [PMID: 25537564]
Johannesma PC, Thunnissen E, & Postmus PE (2014a). Lung cysts as indicator for Birt-Hogg-Dubé syndrome. Lung, 192 (1), 215-6 [PMID: 24146214]
Johannesma PC, van Moorselaar RJ, Horenblas S, van der Kolk LE, Thunnissen E, van Waesberghe JH, Menko FH, Postmus PE (2014b). Bilateral renal tumour as indicator for birt-hogg-dubé syndrome. Case reports in medicine, 2014 [PMID: 24772173] [BHD Article Library]
Johannesma PC, Thunnissen E, & Postmus PE (2014c). How reliable are clinical criteria in distinguishing between Birt-Hogg-Dubé syndrome and smoking as a cause for pneumothorax? Histopathology, 64 (7), 1045-6 [PMID: 24383416]
Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, Postmus PE (2014d). Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]
Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, Postmus PE (2014e). The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19 (8), 1248-50 [PMID: 25302759]
Johannesma PC, van Waesberghe JH, Reinhard R, Gille J, van Moorselaar J, Houweling AC, Starink TM, Menko FH, Postmus PE (2014f). Birt-Hogg-Dube patients with and without pneumothorax: findings on chest CT. Am J Respir Crit Care Med, 189, A6416 [Journal]
Kalsotra A, Xiao X, Ward AJ, Castle JC, Johnson JM, Burge CB, Cooper TA. (2008) A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci USA, 105 (51), 20333-8 [PMID: 19075228] [Free full text]
Kamada T, Yoshikawa Y, Shirase T, Furuya M, Yutaka Y (2015). Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome. J Dermatol. Sep 21. [PMID: 26387484].
Kapoor R, Evins AI, Steitieh D, Bernardo A, Stieg PE (2015). Birt-Hogg-Dubé syndrome and intracranial vascular pathologies. Fam Cancer. May 8. [PMID: 25952757]
Kashiwada T, Shimizu H, Tamura K, Seyama K, Horie Y, Mizoo A. (2012) Birt-Hogg-Dubé syndrome and familial adenomatous polyposis: an association or a coincidence? Intern Med, 51 (13), 1789-92 [PMID: 22790147] [BHD Article Library]
Kawai A, Kobayashi T, Hino O. (2013) Folliculin regulates cyclin D1 expression through cis-acting elements in the 3′ untranslated region of cyclin D1 mRNA. Int J Oncol, 42 (5), 1597-604 [PMID: 23525507]
Kawasaki H, Sawamura D, Nakazawa H, Hattori N, Goto M, Sato-Matsumura KC, Akiyama M, Shimizu H. (2005) Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome. Br J Dermatol, 152 (1), 142-5 [PMID: 15656814]
Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ, Owen CA, Huang H, Baron RM, & Henske EP (2014). Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2 (8) [PMID: 25121506] [BHD Article Library]
Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskjöld M, Teh BT. (2001) Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene, 20 (37), 5239-42 [PMID: 11526515] [BHD Article Library]
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjöld M, Teh BT (2003). Inactivation of BHD in sporadic renal tumors. Cancer Res, 63 (15), 4583-7 [PMID: 12907635] [BHD Article Library]
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjöld M, Richard S (2002). Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet, 39 (12), 906-12 [PMID: 12471204] [BHD Article Library]
Kilincer A, Ariyurek OM, Karabulut N. Cystic lung disease in birt-hogg-dubé syndrome: a case series of three patients. Eurasian J Med. 2014 Jun;46(2):138-41. [PMID: 25610314]
Kim EH, Jeong SY, Kim HJ, Kim YC. (2008) A case of Birt-Hogg-Dubé syndrome. J Korean Med Sci, 23 (2), 332-5 [PMID: 18437022] [BHD Article Library]
Kim J, Yoo JH, Kang DY, Cho NJ, Lee KA. (2012) Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax. Gene, 499 (2), 339-42 [PMID: 22446046]
Klaus A, Birchmeier W. (2008) Wnt signalling and its impact on development and cancer. Nat Rev Cancer, 8 (5), 387-98 [PMID: 18432252]
Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA (2010). Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. BMC Med Genomics, 3, 59 [PMID: 21162720] [BHD Article Library]
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D. (2010) Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol, 162 (3), 527-37 [PMID: 19785621]
Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJ, Bell K, van Rens A, van der Velden AW, Middelton L, Horenblas S. (2009) Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. Clin Genet, 75 (6), 537-43 [PMID: 19320655]
Knudson AG Jr. (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA, 68 (4), 820-3 [PMID: 5279523] [Free full text]
Koga S, Furuya M, Takahashi Y, Tanaka R, Yamaguchi A, Yasufuku K, Hiroshima K, Kurihara M, Yoshino I, Aoki I, Nakatani Y (2009). Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats. Pathol Int, 59 (10), 720-8 [PMID: 19788617] [BHD Article Library]
Kolb TM, King LS, Pearse DB (2013). A 32-year-old woman with dyspnea, lung cysts, and previous pneumothoraces. Chest, 144 (6), 1964-8 [PMID: 24297131]
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]
Kouchi M, Okimoto K, Matsumoto I, Tanaka K, Yasuba M, Hino O. (2006) Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. Virchows Arch, 448 (4), 463-71 [PMID: 16447066]
Krymskaya VP, Goncharova E, Li H, Pimtong W, Baba M, Schmidt LS, Linehan WM, Hino O, Goncharov D (2010). Folliculin is required for cell-cell contact integrity: relevance to lung cyst formation in BHD. Fam Cancer, 9 Suppl1:S4 [PMID: 20229310]
Kumasaka T, Hayashi T, Mitani K, Kataoka H, Kikkawa M, Tobino K, Kobayashi E, Gunji Y, Kunogi M, Kurihara M, Seyama K (2014). Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology, 65 (1), 100-10 [PMID: 24393238] [BHD Article Library]
Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, Gunji Y, Kikkawa M, Iwakami S, Hino O, Takahashi K, Seyama K (2010). Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet, 47 (4), 281-7 [PMID: 20413710] [BHD Article Library]
Kunogi Okura M, Yae T, Nagashima O, Hirai S, Kumasaka T, Iwase A (2013). Pneumothorax Developing for the First Time in a 73-year-old Woman Diagnosed with Birt-Hogg-Dubé Syndrome. Inter Med, 52 (21), 2453-5 [PMID: 24190151] [BHD Article Library]
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama HO, Ota S, Michal M, Hes O, Nakatani Y (2014). Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome. Annals of diagnostic pathology, 18 (3), 171-6 [PMID: 24767893]
Lamberti C, Schweiger N, Hartschuh W, Schulz T, Becker-Wegerich P, Küster W, Rütten A, Sauerbruch T, Ruzicka T, Kruse R. (2005) Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient. Acta Derm Venereol, 85 (2), 172-3 [PMID: 15864829]
Landau D, Eshet R, Troib A, Gurman Y, Chen Y, Rabkin R, Segev Y. (2009) Increased renal Akt/mTOR and MAPK signaling in type I diabetes in the absence of IGF type 1 receptor activation. Endocrine, 36 (1), 126-34 [PMID: 19387875]
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science, 260 (5112), 1317-20 [PMID: 8493574]
Laviolette LA, Wilson J, Koller J, Neil C, Hulick P, Rejtar T, Karger B, Teh BT, Iliopoulos O (2013). Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations. PloS one, 8 (7) [PMID: 23874397] [BHD Article Library]
Le Guyadec T, Dufau JP, Poulain JF, Vaylet F, Grossin M, Lanternier G. (1998) Multiple trichodiscomas associated with colonic polyposis. Ann Dermatol Venereol, 125 (10), 717-9 [Article in French] [PMID: 9835964]
Lee DC, Sohn HA, Park ZY, Oh S, Kang YK, Lee KM, Kang M, Jang YJ, Yang SJ, Hong YK, Noh H, Kim JA, Kim DJ, Bae KH, Kim DM, Chung SJ, Yoo HS, Yu DY, Park KC, Yeom YI (2015). A lactate-induced response to hypoxia. Cell. Apr 23;161(3):595-609.[PMID: 25892225]
Lencastre A, Ponte P, Apetato M, Nunes L, & Lestre S (2013). Birt-Hogg-Dubé syndrome. An Bras Dermatol, 88 (6 Suppl 1), 203-5 [PMID: 24346920] [BHD Article Library]
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH (2008). Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol, 128 (1), 45-9 [PMID: 17611575] [BHD Article Library]
Lichte V, Hanneken S, Gerber PA, van Geel M, Frank J. (2012) Facial papules and pneumothoraces. Birt-Hogg-Dubé syndrome. Hautarzt, 63 (10), 762-5 [Article in German] [PMID: 23052100]
Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, Hidaka M. (2012) Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair, 11 (3), 259-66 [PMID: 22209521]
Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER (2010). A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat, 31 (1), E1043-51 [PMID: 19802896] [BHD Article Library]
Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet, 15 (13), 2087-97 [PMID: 16717059] [Full free text]
Lin Z, Gong K, Pang B, Zeng C, Zhang D. Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family. Intern Med. 2014;53(24):2825-8. Epub 2014 Dec 15. [PMID: 25500447]
Lindor NM, Kasperbauer J, Lewis JE, Pittelkow M. (2012) Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. Hered Cancer Clin Pract, 10 (1), 13 [PMID: 23050938] [BHD Article Library]
Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA (2003). A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Molec Genet, 12 (23), 3043-53 [PMID: 14532326] [BHD Article Library]
Liu V, Kwan T, Page EH. (2000) Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol, 43 (6), 1120-2 [PMID: 11100034]
Liu W, Chen Z, Ma Y, Wu X, Jin Y, Hou S. (2013) Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene. PloS one, 8 (6), e65869 [PMID: 23799055] [BHD Article Library]
Liu Z, Xu KF, Hu C, Chen R, Duan J, Shi Y, Wang Y, Zhang W, Moss J, Wu J, & Zhang H (2014). Use of whole-exome sequencing for the diagnosis of atypical birt-hogg-dubé syndrome. Journal of genetics and genomics = Yi chuan xue bao, 41 (8), 449-51 [PMID: 25160977]
Lium B, Moe L. (1985) Hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in the German shepherd dog: macroscopic and histopathologic changes. Vet Pathol, 22 (5), 447-55 [PMID: 4049673]
Lu X, Wei W, Fenton J, Nahorski MS, Rabai E, Reiman A, Seabra L, Nagy Z, Latif F, Maher ER. (2011) Therapeutic targeting the loss of the birt-hogg-dube suppressor gene. Mol Cancer Ther, 10 (1), 80-9 [PMID: 21220493] [BHD Article Library]
Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, Maher ER. (2013) Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN). Oncogene [Epub ahead of print] [PMID: 23416984]
Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. (2001) Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet, 9 (12), 892-902 [PMID: 11840190] [Free full text]
Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles RH, Coull BJ, van Steensel MA (2013). Birt-Hogg-Dube syndrome is a novel ciliopathy. Hum Mol Genet, 22 (21), 4383-97 [PMID: 23784378]
Lynch M, Sheahan K, Lavelle M, Collins P. (2011) Multiple facial white papules. Birt-Hogg-Dubé syndrome (BHDS). Arch Dermatol, 147 (4), 499-504 [PMID: 21482903]
Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M (2011). Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. Clin Genet, 79 (4), 345-54 [PMID: 20618353]
Martina JA, Diab HI, Lishu L, Jeong-A L, Patange S, Raben N, Puertollano R (2014). The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris. Science signaling, 7 (309): ra9 [PMID: 24448649]
Martínez-Pérez A, Santos-Alarcón S, Armañanzas-Villena E, Soriano-Camacho P (2016). Birt-Hogg-Dubé syndrome and colon polyps. Rev Gastroenterol Mex. pii: S0375-0906(16)00002-1. [PMID: 26832844]
Martinez-Ruiz G, Maldonado V, Ceballos-Cancino G, Grajeda JP, Melendez-Zajgla J. (2008) Role of Smac/DIABLO in cancer progression. J Exp Clin Cancer Res, 27, 48 [PMID: 18822137] [Free full text]
Matsumoto I, Kouchi M, Okimoto K, Kijima K, Ueda T, Hirayama Y, Inoue T, Seki T, Hino O (2009). Establishment and characterization of renal carcinoma cell lines from a Bhd gene mutant (Nihon) rat. Tumour Biol. 30(5-6):249-56. [PMID: 19816092]
Matsuoka Y, Adachi Y, Metsugi H, Tokushima T, & Adachi Y (2014). Birt-hogg-dubé syndrome with repeated pneumothorax;report of a case. Kyobu geka. The Japanese journal of thoracic surgery, 67 (10), 946-9 [PMID: 25201377] [Article in Japanese]
Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, Darling TN, Hofmann I, Krymskaya VP, Liao JK, Huang H, Henske EP (2012). Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PloS one, 7 (11), e47842 [PMID: 23139756] [BHD Article Library]
Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB, Starink TM, Postmus PE, Coull BJ, van Steensel MA, Gille JJ (2013). A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Fam Cancer, 12 (3), 373-9 [PMID: 23264078]
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Menzies S, Fabre A, Lally A (2016). Birt-Hogg-Dubé syndrome: identifying patients at risk of renal cell carcinoma, pulmonary cysts and pneumothoraces. BMJ Case Rep. pii: bcr2015213865. [PMID: 26762352]
Michels G, Erdmann E, Schmidt W, Frank KF, Pfister R. (2012) Pneumomediastinum and striking family history: uncommon case of Birt-Hogg-Dubé syndrome. Intern Med, 51 (15), 2007-9 [PMID: 22864127] [BHD Article Library]
Mikesell KV, Kulaylat AN, Donaldson KJ, Saunders BD, Crist HS (2014). A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies. Case Rep Pathol. 2014:753694. [PMID: 25610687]
Misago N, Joh K, Yatsuki H, Soejima H, Narisawa Y. (2008) A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome. Acta Derm Venereola, 88 (4), 423-5 [PMID: 18709329] [BHD Article Library]
Misago N, Kimura T, Narisawa Y. (2009) Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features. J Cut Pathol, 36 (9), 943-51 [PMID: 19674199]
Mizutani Y, Nakanishi H, Yamamoto K, Li YN, Matsubara H, Mikami K, Okihara K, Kawauchi A, Bonavida B, Miki T. (2005) Downregulation of Smac/DIABLO expression in renal cell carcinoma and its prognostic significance. J Clin Oncology, 23 (3), 448-54 [PMID: 15572731] [Free full text]
Montero JC, Esparís-Ogando A, Re-Louhau MF, Seoane S, Abad M, Calero R, Ocaña A, Pandiella A. (2014) Active kinase profiling, genetic and pharmacological data define mTOR as an important common target in triple-negative breast cancer. Oncogene, 33 (2), 148-56 [PMID: 23246963]
Mota-Burgos A, Acosta EH, Márquez FV, Mendiola M, Herrera-Ceballos E. (2013) Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene. Int J Dermatol, 52 (3), 323-6 [PMID: 23414156]
Murakami T, Sano F, Huang Y, Komiya A, Baba M, Osada Y, Nagashima Y, Kondo K, Nakaigawa N, Miura T, Kubota Y, Yao M, Kishida T (2007). Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma. J Pathol, 211 (5), 524-31 [PMID: 17323425]
Murakami Y, Wataya-Kaneda M, Tanaka M, Takahashi A, Tsujimura A, Inoue K, Nonomura N, Katayama I (2014). Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas. Case reports in dermatology, 6 (1), 20-8 [PMID: 24748863] [BHD Article Library]
Nachira D, Meacci E, Petracca Ciavarella L, Novellis P, Petrone G, Margaritora S, Lococo F, Granone P (2014). Recurrent pneumothoraces and facial papules: an insidious pulmonary cystic disease. Can Respir J. Jul-Aug;21(4):e61-2.[PMID: 24914707]
Näf E, Laubscher D, Hopfer H, Streit M, Matyas G (2016). Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas. Fam Cancer. 15(1):127-32. [PMID: 26342594]
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O. (2000) Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res, 7(2), 143-50. [PMID: 10819331] [Full free text]
Nagashima Y, Furuya M, Gotohda H, Takagi S, Hes O, Michal M, Grossmann P, Tanaka R, Nakatani Y, Kuroda N. (2012) FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation. Int J Urol, 19 (5), 468-70 [PMID: 22211584] [BHD Article Library]
Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER (2010). Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet, 47 (6), 385-90 [PMID: 20522427]
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. Hum Mutat, 32 (8), 921-9 [PMID: 21538689]
Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P, Maher ER (2012). Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet, 21 (24), 5268-79 [PMID: 22965878] [BHD Article Library]
Nakamura M, Yao M, Sano F, Sakata R, Tatenuma T, Makiyama K, Nakaigawa N, Kubota Y. (2013) A case of metastatic renal cell carcinoma associated with birt-hogg-dubé syndrome treated with molecular-targeting agents. Hinyokika Kiyo, 59 (8), 503-6 [Article in Japanese] [PMID: 23995526]
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS (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-Dubé syndrome. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]
Nishida C, Yatera K, Yamasaki K, Torii R, Kawanami Y, Kawanami T, Ishimoto H, Shibuya R, Takenaka M, Yamada S, Kasai T, Tanaka F, Mukae H (2015). Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities. Respir Med. Jul;109(7):923-5. [PMID: 26028485]
Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, Furuya M. (2013) Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. Pathol Int, 63 (1), 45-55 [PMID: 23356225] [BHD Article Library]
Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, Blundell TL. (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol, 2 (8), 120071 [PMID: 22977732] [BHD Article Library]
Okada A, Hirono T, Watanabe T, Hasegawa G, Tanaka R, Furuya M (2015). Partial Pleural Covering for Intractable Pneumothorax in Patients with Birt-Hogg-Dubé Syndrome. Clin Respir J. Jun 15. [PMID: 26073198]
Okimoto K, Sakurai J, Kobayashi T, Mitani H, Hirayama Y, Nickerson ML, Warren MB, Zbar B, Schmidt LS, Hino O. (2004) A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA, 101 (7), 2023-7 [PMID: 14769940] [BHD Article Library]
Olivero M, Valente G, Bardelli A, Longati P, Ferrero N, Cracco C, Terrone C, Rocca-Rossetti S, Comoglio PM, Di Renzo MF. (1999) Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family. Int J Cancer, 82 (5), 640-3 [PMID: 10417759] [Free full text]
Onuki T, Goto Y, Kuramochi M, Inagaki M, Bhunchet E, Suzuki K, Tanaka R, Furuya M (2014). Radiologically indeterminate pulmonary cysts in Birt-Hogg-Dubé syndrome. The Annals of thoracic surgery, 97 (2), 682-5 [PMID: 24484808]
Ottosen S, Herrera FJ, Triezenberg SJ. (2002) Transcription. Proteasome parts at gene promoters. Science, 296 (5567), 479-81 [PMID: 11964465]
Pacitto A, Ascher DB, Wong LH, Blaszczyk BK, Nookala RK, Zhang N, Dokudovskaya S, Levine TP, Blundell TL (2015). Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein. Open Biol. 5(12). [PMID: 26631379]
Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomäki K. (2005) A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet, 76 (3), 522-7 [PMID: 15657874] [BHD Article Library]
Palmirotta R, Donati P, Savonarola A, Cota C, Ferroni P, Guadagni F. (2008) Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol, 18 (4), 382-6 [PMID: 18573707] [BHD Article Library]
Park G, Kim HR, Na CH, Choi KC, Shin BS. (2011) Genetic study in a case of birt-hogg-dubé syndrome. Ann Dermatol, 23 (Suppl 2), S188-92 [PMID: 22148047] [BHD Article Library]
Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM (2012). Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. Immunity, 36 (5), 769-81 [PMID: 22608497] [BHD Article Library]
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM (2005). Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ (2002). Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol, 26 (12), 1542-52 [PMID: 12459621]
Péli-Gulli MP, Sardu A, Panchaud N, Raucci S, De Virgilio C (2015). Amino Acids Stimulate TORC1 through Lst4-Lst7, a GTPase-Activating Protein Complex for the Rag Family GTPase Gtr2. Cell Rep. Oct 6;13(1):1-7. [PMID: 26387955]
Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID (2013). A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia, 62 (1), 39-51. [PMID: 24272703]
Péli-Gulli MP, Sardu A, Panchaud N, Raucci S, De Virgilio C (2015). Amino Acids Stimulate TORC1 through Lst4-Lst7, a GTPase-Activating Protein Complex for the Rag Family GTPase Gtr2. Cell Rep. 13(1):1-7. [PMID: 26387955]
Petit CS, Roczniak-Ferguson A, Ferguson SM (2013). Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. J Cell Biol, 202 (7), 1107-1122 [PMID: 24081491]
Piao X, Kobayashi T, Wang L, Shiono M, Takagi Y, Sun G, Abe M, Hagiwara Y, Zhang D, Okimoto K, Kouchi M, Matsumoto I, Hino O (2009). Regulation of folliculin (the BHD gene product) phosphorylation by Tsc2-mTOR pathway. Biochem Biophys Res Commun, 389 (1), 16-21 [PMID: 19695222]
Pierce CW, Hull PR, Lemire EG, Marciniuk DD. (2011) Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax. CMAJ, 183 (9), e601-3 [PMID: 21398229] [BHD Article Library]
Pimenta SP, Baldi BG, Nascimento EC, Mauad T, Kairalla RA, Carvalho CR. (2012) Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. Clinics (Sao Paulo), 67 (12), 1501‑4 [PMID: 23295609] [BHD Article Library]
Pittet O, Christodoulou M, Staneczek O, Ris HB. (2006) Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. Ann Thorac Surg, 82 (3), 1123-5 [PMID: 16928562] [BHD Article Library]
Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L, Jones RG, Hall DH, Pause A (2014). Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10 (4) [PMID: 24763318] [BHD Article Library]
Possik E, Ajisebutu A, Manteghi S, Gingras MC, Vijayaraghavan T, Flamand M, Coull B, Schmeisser K, Duchaine T, van Steensel M, Hall DH, Pause A (2015). FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores. PLoS Genet. Oct 6;11(10). [PMID: 26439621]
Postmus PE, Johannesma PC, Menko FH, Paul MA (2014). In-Flight Pneumothorax: Diagnosis may be missed because of symptom delay. American journal of respiratory and critical care medicine, 190 (6), 704-5 [PMID: 25221882]
Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M, Turchetti D, Gasparre G (2013). Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet, 21 (10), 1169-72 [PMID: 23386036]
Predina JD, Kotloff RM, Miller WT, Singhal S. (2011) Recurrent spontaneous pneumothorax in a patient with Birt-Hogg-Dubé syndrome. Eur J Cardiothorac Surg, 39 (3), 404-6 [PMID: 20692178] [BHD Article Library]
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM, Land SC, Pause A, Baar K, van Steensel MA, Tee AR (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]
Pritchard SE, Mahmoudizad R, Parekh PK (2014). Successful treatment of facial papules with electrodessication in a patient with birt-hogg-dubé syndrome. Dermatology online journal, 20 (7) [PMID: 25046466] [BHD Article Library]
Pritchett EN, Kim J, Patel K, Patel T, Cusack CA (2015). Birt-Hogg-Dubé Syndrome in an African Patient and a Novel Mutation in the FLCN Gene. JAMA Dermatol. [Epub ahead of print] [PMID: 25408992]
Ray A, Paul S, Chattopadhyay E, Kundu S, Roy B. Genetic Analysis of Familial Spontaneous Pneumothorax in an Indian Family. Lung. 2015 Apr 1. [Epub ahead of print] [PMID: 25827758]
Raymond VM, Long JM, Everett JN, Caoili EM, Gruber SB, Stoffel EM, Giordano TJ, Hammer GD, Else T. (2014) An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome. Clin Endocrinol (Oxf), 80 (6), 925-7 [PMID: 23848572]
Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, Maher ER. (2012) Gene expression and protein array studies of folliculin-regulated pathways. Anticancer Res, 32 (11), 4663-70 [PMID: 23155228]
Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, & Yi L. (2008) Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin Genet, 74 (2), 178-83 [PMID: 18505456]
Reyes NL, Banks GB, Tsang M, Margineantu D, Gu H, Djukovic D, Chan J, Torres M, Liggitt HD, Hirenallur-S DK, Hockenbery DM, Raftery D, & Iritani BM (2015). Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 112 (2), 424-9 [PMID: 25548157]
Richards JC, Lynch DA, Chung JH (2015). Cystic and Nodular Lung Disease. Clin Chest Med. Jun;36(2):299-312. Review. [PMID: 26024606]
Roa BB, Garcia CA, Lupski JR. (1991) Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol, 97-107 [PMID: 11980069]
Roberg KJ, Bickel S, Rowley N, Kaiser CA. (1997) Control of amino acid permease sorting in the late secretory pathway of Saccharomyces cerevisiae by SEC13, LST4, LST7 and LST8. Genetics, 147 (4), 1569-84 [PMID: 9409822] [BHD Article Library]
Roberts PJ, Der CJ. (2007) Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer. Oncogene, 26 (22), 3291-310 [PMID: 17496923] [Free full text]
Sakaguchi M, Gotou H, Nakahara T, Fuke M, Nishimura K, Kuraishi H, Furuya M (2014). [Acute type a aortic dissection with birt-hogg-dubé syndrome;report of a case]. Kyobu geka. The Japanese journal of thoracic surgery, 67 (5), 415-8 [PMID: 24917291] [Article in Japanese]
Sander KE, Schnabel PA, Heußel CP, Pfannschmidt J, Herth FJ, Kreuter M. (2013) Familial pulmonary cysts and papular skin lesions in a 37-year-old woman. Pneumologie, 67 (8), 471-5 [Article in German] [PMID: 23846428]
Sano S, Sakagami R, Sekiguchi M, Hidaka M. (2013) Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis. Biochem Biophys Res Commun, 430 (2), 810-5 [PMID: 23201403]
Sarbassov DD, Ali SM, Sabatini DM. (2005) Growing roles for the mTOR pathway. Curr Opin Cell Biol, 17 (6), 596-603 [PMID: 16226444]
Sattler EC, Lang MU, van Steensel MA, van Geel M, Schneider JJ, Flaig MJ, Ruzicka T, Burgdorf W, Steinlein OK. (2012) Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. Acta Derm Venereol, 92 (2), 187-8 [PMID: 22068306] [BHD Article Library]
Scalvenzi M, Argenziano G, Sammarco E, Delfino M. (1998) Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubè. J Eur Acad Dermatol Venereol, 11 (1), 45-7 [PMID: 9731965]
Schachtschabel AA, Küster W, Happle R. (1996) Perifollicular fibroma of the skin and colonic polyps: Hornstein-Knickenberg syndrome. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 47 (4), 304-6 [Article in German] [PMID: 8655317]
Schmidt LS and Lineham WM (2015). Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndrome. Expert Opinion on Orphan Drugs, 3 (1), 15-29.
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM (2005). Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet, 76 (6), 1023-33 [PMID: 15852235] [BHD Article Library]
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B (2001). Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet, 69 (4), 876-82 [PMID: 11533913] [BHD Article Library]
Schreuer M, Lemmerling M, Pauwels W, Dewilde D, Heyse C, Verstraete KL. (2011) Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. JBR-BTR, 94 (1), 29-31 [PMID: 21466061] [BHD Article Library]
Schulz T, Hartschuh W. (1999) Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cut Pathol, 26 (1), 55-61 [PMID: 10189247]
Semenza GL. (2012) Hypoxia-inducible factors: mediators of cancer progression and targets for cancer therapy. Trends Pharmacol Sci, 33 (4), 207-14 [PMID: 22398146] [Free full text]
Sempau L, Ruiz I, González-Morán A, Susanna X, Hansen TV. (2010) New mutation in the Birt Hogg Dube gene. Actas Dermosifiliogr, 101 (7), 637-40 [PMID: 20858390] [BHD Article Library]
Seo M, Lim D-H, Song JS, Park C-S, Chae EJ, Song JW. (2014) Two cases of Birt-Hogg-Dubé Syndrome with pulmonary cysts. Korean J Med, 87, 477-83 [Journal] [BHD Article Library]
Shin WW, Baek YS, Oh TS, Heo YS, Son SB, Oh CH, Song HJ. (2011) Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. Ann Dermatol, 23 (Suppl 2), S193-6 [PMID: 22148048] [BHD Article Library]
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS (1996). The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum Mol Genet, 5 (9), 1333-8 [PMID: 8872474] [Free full text]
Singh SR, Hou SX. (2009) Multipotent stem cells in the Malpighian tubules of adult Drosophila melanogaster. J Exp Biol, 212 (Pt 3), 413-23 [PMID: 19151216] [BHD Article Library]
Singh SR, Zhen W, Zheng Z, Wang H, Oh SW, Liu W, Zbar B, Schmidt LS, Hou SX. (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 (44), 5933-41 [PMID: 16636660] [BHD Article Library]
Sirintrapun SJ, Geisinger KR, Cimic A, Snow A, Hagenkord J, Monzon F, Legendre BL Jr, Ghazalpour A, Bender RP, Gatalica Z (2014). Oncocytoma-like renal tumor with transformation toward high-grade oncocytic carcinoma: a unique case with morphologic, immunohistochemical, and genomic characterization. Medicine, 93 (15) [PMID: 25275525] [BHD Article Library]
So SY. (2009) Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. Respirology, 14 (5), 775-6 [PMID: 19659657]
Souza CA, Finley R, Müller NL. (2005) Birt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts. AJR Am J Roentgenol, 185 (5), 1237-9 [PMID: 16247141] [BHD Article Library]
Spring P, Fellmann F, Giraud S, Clayton H, Hohl D. (2013) Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol, 35 (2), 241-5 [PMID: 23542717]
Srigley JR, Delahunt B, Eble JN, Egevad L, Epstein JI, Grignon D, Hes O, Moch H, Montironi R, Tickoo SK, Zhou M, Argani P, The ISUP Renal Tumor Panel (2013). The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. Am J Surg Pathol, 37 (10), 1469-1489 [PMID: 24025519]
Stankiewicz P, Lupski JR. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet, 18 (2), 74-82 [PMID: 11818139]
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH (2012). Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. J Am Acad Dermatol, 66 (2), 2590-9 [PMID: 21794948]
Stavrakoglou A, Dubrey SW, Dorkins H, Coutts I. (2010) The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. QJM, 103 (12), 987-90 [PMID: 20392792] [BHD Article Library]
Steff M, Bourillon A, Frebourg T, Balderi X, Descamps V, Joly P, Piette F, Crestani B, Grandchamp B, Soufir N. (2010) Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy. Ann Dermatol Venereol, 137 (3), 203-7 [Article in French] [PMID: 20227563]
Sugimoto K, Takasawa A, Ichimiya S, Murata M, Kimura H, Aoyama T, Gille JJ, Kuroda N, Shimizu H, Hasegawa T, Sawada N, Furuya M, Nagashima Y (2013). Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with ‘capsulomas’ without FCLN gene abnormality. Pathol Int, 63 (10), 510-5 [PMID: 24134681]
Sundaram S, Tasker AD, Morrell NW. (2009) Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. Eur Respir J, 33 (6), 1510-2 [PMID: 19483054] [BHD Article Library]
Takagi Y, Kobayashi T, Shiono M, Wang L, Piao X, Sun G, Zhang D, Abe M, Hagiwara Y, Takahashi K, Hino O (2008). Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene, 27 (40), 5339-47 [PMID: 18663353] [BHD Article Library]
Takahashi A, Hayashi T, Yoshida O, Uede K, Furukawa F, Shuin T. (2001) Renal cell carcinoma in the Birt-Hogg-Dubé syndrome: report of a case. Hinyokika kiyo, 47 (10), 719-21 [Article in Japanese] [PMID: 11758353]
Tamburrini A, Sellitri F, Tacconi F, Brancati F, Mineo TC (2015). Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome. Case Rep Surg.;2015:916039. [PMID: 26346436]
Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP (2015). Benign follicular tumors. An Bras Dermatol. 90(6):780-98. [PMID: 26734858]
Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, Johkoh T, Kodama Y, Iwakami S, Kikkawa M, Takahashi K, Seyama K (2011). Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol, 77 (3), 403-9 [PMID: 19782489]
Tobino K, Hirai T, Johkoh T, Kurihara M, Fujimoto K, Tomiyama N, Mishima M, Takahashi K, Seyama K. (2012) Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol, 81 (6), 1340-6 [PMID: 21550193]
Tobino K, Seyama K. (2012) Birt-Hogg-Dubé syndrome with renal angiomyolipoma. Intern Med, 51 (10), 1279-80 [PMID: 22687807] [BHD Article Library]
Togashi Y, Kobayashi T, Momose S, Ueda M, Okimoto K, Hino O. (2006) Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene. Oncogene, 25 (20), 2885-9 [PMID: 16369488] [BHD Article Library]
Tomassetti S, Carloni A, Chilosi M, Maffè A, Ungari S, Sverzellati N, Gurioli C, Casoni G, Romagnoli M, Gurioli C, Ravaglia C, Poletti V (2011). Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma. Respir Med, 105 (5), 768-74 [PMID: 21356586] [BHD Article Library]
Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, Linehan M, Turner ML. (1999) Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol, 135 (10), 1195-202 [PMID: 10522666] [BHD Article Library]
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM (2007). Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med, 175 (10), 1044-53 [PMID: 17322109] [BHD Article Library]
Toro JR, Shevchenko YO, Compton JG, Bale SJ. (2002) Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. J Med Genet, 39 (2), e10 [PMID: 11836379] [BHD Article Library]
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM (2008). BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]
Truchuelo MT, Alcántara J, Allende I, Almazán-Fernández FM, Boixeda P, González C. (2011) Multiple Facial Papules of Birt-Hogg-Dubé Syndrome Treated with a CO(2) Laser. Ann Dermatol, 23 (Suppl 2), S279-80 [PMID: 22148071] [BHD Article Library]
Truong HT, Dudding T, Blanchard CL, Elsea SH. (2010) Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet, 11, 142 [PMID: 20932317] [Free full text]
Tsun ZY, Bar-Peled L, Chantranupong L, Zoncu R, Wang T, Kim C, Spooner E, Sabatini DM (2013). The Folliculin Tumor Suppressor Is a GAP for the RagC/D GTPases That Signal Amino Acid Levels to mTORC1. Mol Cell, 38 (8):931-2. [PMID: 24095279]
Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G. (2011) Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome. Rev Mal Respir, 28 (3), 355-9 [Article in French] [PMID: 21482341]
van Slegtenhorst M, Khabibullin D, Hartman TR, Nicolas E, Kruger WD, Henske EP. (2007) The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. J Biol Chem, 282 (34), 24583-90 [PMID: 17556368] [BHD Article Library]
van Steensel MA, Verstraeten VL, Frank J, Kelleners-Smeets NW, Poblete-Gutiérrez P, Marcus-Soekarman D, Bladergroen RS, Steijlen PM, van Geel M. (2007) Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol, 127 (3), 588-93 [PMID: 17124507] [BHD Article Library]
Venables JP, Lapasset L, Gadea G, Fort P, Klinck R, Irimia M, Vignal E, Thibault P, Prinos P, Chabot B, Abou Elela S, Roux P, Lemaitre JM, Tazi J (2013). MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation. Nat Commun, 4, 2480 [PMID: 24048253]
Verhagen AM, Silke J, Ekert PG, Pakusch M, Kaufmann H, Connolly LM, Day CL, Tikoo A, Burke R, Wrobel C, Moritz RL, Simpson RJ, Vaux DL (2002). HtrA2 promotes cell death through its serine protease activity and its ability to antagonize inhibitor of apoptosis proteins. J Biol Chem, 277 (1), 445-54 [PMID: 11604410] [Free full text]
Vernooij M, Claessens T, Luijten M, van Steensel MA, Coull BJ. (2013) Birt-Hogg-Dubé syndrome and the skin. Fam Cancer, 12 (3), 381-5 [PMID: 23307118]
Vinit J, Friedel J, Bielefeld P, Muller G, Goudet P, Besancenot JF. (2011) Birt-Hogg-Dubé syndrome and multiple recurrent tumors. Rev Med Interne, 32 (3), e40-2 [Article in French] [PMID: 20576330]
Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM. (2005) High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst, 97 (12), 931-5 [PMID: 15956655] [BHD Article Library]
Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ, Ruan DT, Hanna GJ, Haddad RI, Getz G, Kwiatkowski DJ, Carter SL, Sabatini DM, Jänne PA, Garraway LA, Lorch JH (2014). Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371 (15), 1426-33 [PMID: 25295501]
Wagner SA, Beli P, Weinert BT, Nielsen ML, Cox J, Mann M, Choudhary C. (2011) A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Mol Cell Proteomics, 10 (10), M111.013284 [PMID: 21890473] [BHD Article Library]
Walter P, Kirchhof B, Korge B, Heimann K. (1997) Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome. Graefes Arch Clin Exp Ophthalmol, 235 (6), 359-61 [PMID: 9202964]
Wang L, Kobayashi T, Piao X, Shiono M, Takagi Y, Mineki R, Taka H, Zhang D, Abe M, Sun G, Hagiwara Y, Okimoto K, Matsumoto I, Kouchi M, Hino O (2010). Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product. FEBS Lett, 584 (1), 39-43 [PMID: 19914239] [BHD Article Library]
Warburg O. (1956) On the origin of cancer cells. Science, 123 (3191), 309-14 [PMID: 13298683]
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS. (2004) Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol, 17 (8), 998-1011 [PMID: 15143337] [BHD Article Library]
Warwick G, Izatt L, Sawicka E. (2010) Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature. J Med Case Reports, 4, 106 [PMID: 20403193] [BHD Article Library]
Waterhouse AM, Procter JB, Martin DM, Clamp M, Barton GJ. (2009) Jalview Version 2–a multiple sequence alignment editor and analysis workbench. Bioinformatics, 25 (9), 1189-91 [PMID: 19151095] [Free full text]
Wee JS, Chong H, Natkunarajah J, Mortimer PS, Moosa Y. (2013) Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin. Br J Dermatol, 169 (1), 177-80 [PMID: 23495951]
Wei MH, Blake PW, Shevchenko J, Toro JR. (2009) The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat, 30 (9), e880-90 [PMID: 19562744] [BHD Article Library]
Westermann DH, Rüdiger T, Lohe B, Frohneberg D. (2010) Birt-Hogg-Dubé syndrome: bilateral oncocytic kidney tumors in a patient. Urologe A, 49 (12), 1527-31 [Article in German] [PMID: 20949256]
Wong SP, Harbottle RP. (2013) Genetic modification of dividing cells using episomally maintained S/MAR DNA vectors. Mol Ther Nucleic Acids, 2, e115 [PMID: 23941867] [BHD Article Library]
Woodward ER, Ricketts C, Killick P, Gad S, Morris MR, Kavalier F, Hodgson SV, Giraud S, Bressac-de Paillerets B, Chapman C, Escudier B, Latif F, Richard S, Maher ER (2008). Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res, 14 (18), 5925-30 [PMID: 18794106] [BHD Article Library]
Wu M, Si S, Li Y, Schoen S, Xiao GQ, Li X, Teh BT, Wu G, Chen J (2015). Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression. Oncotarget. Sep 21. [PMID: 26418749]
Wullschleger S, Loewith R, Hall MN. (2006) TOR signaling in growth and metabolism. Cell, 124 (3), 471-84 [PMID: 16469695]
Xia Q, Wang G, Wang H, Hu Q, Ying Z (2016). Folliculin, a tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation. Hum Mol Genet 25(1):83-96. [PMID: 26516189]
Yamada Y, Sakamoto S, Furuya M, Nihei N, Nakatani Y, Ichikawa T (2014). Case of bilateral and multifocal renal cell carcinoma associated with Birt-Hogg-Dubé syndrome. International journal of urology : official journal of the Japanese Urological Association. [Epub Ahead of Print] [PMID: 25351926]
Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB, Faubert B, Kamps M, Sabourin S, Preston RS, Davies DM, Roughead T, Chotard L, van Steensel MA, Jones R, Tee AR, Pause A (2014). The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation, 124 (6), 2640-50 [PMID: 24762438] [BHD Article Library]
Yang CY, Wang HC, Chen JS, Yu CJ (2013). Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome. J Postgrad Med, 59 (4), 321-3 [PMID: 24346394]
Yang GG, Chiang CC. (2013) Recurrent spontaneous pneumothoraces. Am J Respir Crit Care Med, 188 (1), e1-2 [PMID: 23815732]
Yang Y, Padilla-Nash HM, Vira MA, Abu-Asab MS, Val D, Worrell R, Tsokos M, Merino MJ, Pavlovich CP, Ried T, Linehan WM, Vocke CD (2008). The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dubé gene pathway. Cancer Genet Cytogenet, 180 (2), 100-9 [PMID: 18206534] [BHD Article Library]
Ying QL, Nichols J, Chambers I, Smith A. (2003) BMP induction of Id proteins suppresses differentiation and sustains embryonic stem cell self-renewal in collaboration with STAT3. Cell, 115 (3), 281-92 [PMID: 14636556]
Yu Y, Yoon SO, Poulogiannis G, Yang Q, Ma XM, Villén J, Kubica N, Hoffman GR, Cantley LC, Gygi SP, Blenis J (2011). Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling. Science, 332 (6035), 1322-6 [PMID: 21659605] [BHD Article Library]
Zamora CA, Rowe SP, Horton KM (2015). Case 218: birt-hogg-dubé syndrome. Radiology. Jun;275(3):923-7. [PMID: 25997135]
Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM (2002). Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev, 11 (4), 393-400 [PMID: 11927500] [BHD Article Library]
Zenone T (2014). An inherited cause of pneumothorax–the Birt-Hogg-Dubé syndrome. QJM : monthly journal of the Association of Physicians, 107 (5), 393-4 [PMID: 23904515]
Zhang D, Iyer LM, He F, Aravind L. (2012) Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. Front Genet, 3, 283 [PMID: 23248642] [BHD Article Library]
Zhang Q, Si S, Schoen S, Chen J, Jin XB, Wu G (2013). Suppression of autophagy enhances preferential toxicity of paclitaxel to folliculin-deficient renal cancer cells. J Exp Clin Cancer Res, 32 (1), 99 [PMID: 24305604] [BHD Article Library]
Zhang Q, Si S, Schoen S, Jin XB, Chen J, Wu G (2014). Folliculin Deficient Renal Cancer Cells Show Higher Radiosensitivity through Autophagic Cell Death. J Urol, 191 (6), 1880-8 [PMID: 24434776]
Further reading: the majority of the literature relating to this document can be found in the BHD Literature Database.