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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: davies dm, davies pa. 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.
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: davies dm. 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.
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. Among authors: davies dm. 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.
The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.
Randell E, McNamara R, Davies DM, Owen-Jones E, Kirby N, Angel L, Drew C, Cannings-John R, Smalley M, Saxena A, McDermott E, Stockwell L, de Vries PJ, Hood K, Sampson JR. Randell E, et al. Among authors: davies dm. Trials. 2016 Aug 11;17:398. doi: 10.1186/s13063-016-1446-6. Trials. 2016. PMID: 27515417 Free PMC article. Clinical Trial.
261 results