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Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.

Schmidt LS, Linehan WM.

Expert Opin Orphan Drugs. 2015;3(1):15-29. Epub 2014 Nov 29.


Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn.

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.

Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1624-31. doi: 10.1073/pnas.1419502112. Epub 2015 Mar 16.


A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.

Mikesell KV, Kulaylat AN, Donaldson KJ, Saunders BD, Crist HS.

Case Rep Pathol. 2014;2014:753694. doi: 10.1155/2014/753694. Epub 2014 Dec 25.


Novel recurrently mutated genes in African American colon cancers.

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.

Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1149-54. doi: 10.1073/pnas.1417064112. Epub 2015 Jan 12.


Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Benusiglio PR, Giraud S, Deveaux S, Méjean A, Correas JM, Joly D, Timsit MO, Ferlicot S, Verkarre V, Abadie C, Chauveau D, Leroux D, Avril MF, Cordier JF, Richard S; French National Cancer Institute Inherited Predisposition to Kidney Cancer Network.

Orphanet J Rare Dis. 2014 Oct 29;9:163. doi: 10.1186/s13023-014-0163-z.


Response and acquired resistance to everolimus in anaplastic thyroid cancer.

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.

N Engl J Med. 2014 Oct 9;371(15):1426-33. doi: 10.1056/NEJMoa1403352.


Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells.

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.

Physiol Rep. 2014 Aug 12;2(8). pii: e12107. doi: 10.14814/phy2.12107. Print 2014 Aug 1.


Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.

Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, van Steensel MA.

PLoS One. 2014 Jun 9;9(6):e99071. doi: 10.1371/journal.pone.0099071. eCollection 2014.


Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

Kumasaka T, Hayashi T, Mitani K, Kataoka H, Kikkawa M, Tobino K, Kobayashi E, Gunji Y, Kunogi M, Kurihara M, Seyama K.

Histopathology. 2014 Jul;65(1):100-10. doi: 10.1111/his.12368. Epub 2014 Mar 4.


The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.

Tsun ZY, Bar-Peled L, Chantranupong L, Zoncu R, Wang T, Kim C, Spooner E, Sabatini DM.

Mol Cell. 2013 Nov 21;52(4):495-505. doi: 10.1016/j.molcel.2013.09.016. Epub 2013 Oct 3.


Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases.

Petit CS, Roczniak-Ferguson A, Ferguson SM.

J Cell Biol. 2013 Sep 30;202(7):1107-22. doi: 10.1083/jcb.201307084.


Targeting the PI3-kinase/Akt/mTOR signaling pathway.

Hassan B, Akcakanat A, Holder AM, Meric-Bernstam F.

Surg Oncol Clin N Am. 2013 Oct;22(4):641-64. doi: 10.1016/j.soc.2013.06.008. Epub 2013 Aug 6. Review.


Genetic modification of dividing cells using episomally maintained S/MAR DNA vectors.

Wong SP, Harbottle RP.

Mol Ther Nucleic Acids. 2013 Aug 13;2:e115. doi: 10.1038/mtna.2013.40.


Folliculin contributes to VHL tumor suppressing activity in renal cancer through regulation of autophagy.

Bastola P, Stratton Y, Kellner E, Mikhaylova O, Yi Y, Sartor MA, Medvedovic M, Biesiada J, Meller J, Czyzyk-Krzeska MF.

PLoS One. 2013 Jul 29;8(7):e70030. doi: 10.1371/journal.pone.0070030. Print 2013.


Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations.

Laviolette LA, Wilson J, Koller J, Neil C, Hulick P, Rejtar T, Karger B, Teh BT, Iliopoulos O.

PLoS One. 2013 Jul 11;8(7):e66775. doi: 10.1371/journal.pone.0066775. Print 2013.


Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene.

Liu W, Chen Z, Ma Y, Wu X, Jin Y, Hou S.

PLoS One. 2013 Jun 17;8(6):e65869. doi: 10.1371/journal.pone.0065869. Print 2013.


Disrupted ectodermal organ morphogenesis in mice with a conditional histone deacetylase 1, 2 deletion in the epidermis.

Hughes MW, Jiang TX, Lin SJ, Leung Y, Kobielak K, Widelitz RB, Chuong CM.

J Invest Dermatol. 2014 Jan;134(1):24-32. doi: 10.1038/jid.2013.283. Epub 2013 Jun 21.


Birt-Hogg-Dube syndrome is a novel ciliopathy.

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.

Hum Mol Genet. 2013 Nov 1;22(21):4383-97. doi: 10.1093/hmg/ddt288. Epub 2013 Jun 19.


Pulmonary manifestations of Birt-Hogg-Dubé syndrome.

Gupta N, Seyama K, McCormack FX.

Fam Cancer. 2013 Sep;12(3):387-96. doi: 10.1007/s10689-013-9660-9. Review.


Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis.

Basten SG, Giles RH.

Cilia. 2013 Apr 29;2(1):6. doi: 10.1186/2046-2530-2-6.

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