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Page 1
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. Luijten MN, et al. Hum Mol Genet. 2013 Nov 1;22(21):4383-97. doi: 10.1093/hmg/ddt288. Epub 2013 Jun 19. Hum Mol Genet. 2013. PMID: 23784378 Free PMC article.
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.
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. Yan M, et al. J Clin Invest. 2014 Jun;124(6):2640-50. doi: 10.1172/JCI71749. Epub 2014 Apr 24. J Clin Invest. 2014. PMID: 24762438 Free PMC article.
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility.
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. Preston RS, et al. Oncogene. 2011 Mar 10;30(10):1159-73. doi: 10.1038/onc.2010.497. Epub 2010 Nov 8. Oncogene. 2011. PMID: 21057536 Free PMC article.