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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. Among authors: land sc. 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.
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. Among authors: land sc. 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.
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.
Dunlop EA, Dodd KM, Land SC, Davies PA, Martins N, Stuart H, McKee S, Kingswood C, Saggar A, Corderio I, Medeira AM, Kingston H, Sampson JR, Davies DM, Tee AR. Dunlop EA, et al. Among authors: land sc. Eur J Hum Genet. 2011 Jul;19(7):789-95. doi: 10.1038/ejhg.2011.38. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407264 Free PMC article.
52 results