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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: tee ar. 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: tee ar. 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.
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