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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Southgate L, et al. Among authors: dafou d. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013. Am J Hum Genet. 2011. PMID: 21565291 Free PMC article.
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. Simpson MA, et al. Among authors: dafou d. Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265017 Free PMC article.
The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility.
Kiuchi T, Ortiz-Zapater E, Monypenny J, Matthews DR, Nguyen LK, Barbeau J, Coban O, Lawler K, Burford B, Rolfe DJ, de Rinaldis E, Dafou D, Simpson MA, Woodman N, Pinder S, Gillett CE, Devauges V, Poland SP, Fruhwirth G, Marra P, Boersma YL, Plückthun A, Gullick WJ, Yarden Y, Santis G, Winn M, Kholodenko BN, Martin-Fernandez ML, Parker P, Tutt A, Ameer-Beg SM, Ng T. Kiuchi T, et al. Among authors: dafou d. Sci Signal. 2014 Aug 19;7(339):ra78. doi: 10.1126/scisignal.2005157. Sci Signal. 2014. PMID: 25140053
Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
Petrova A, Capalbo A, Jacquet L, Hazelwood-Smith S, Dafou D, Hobbs C, Arno M, Farcomeni A, Devito L, Badraiq H, Simpson M, McGrath JA, Di WL, Cheng JB, Mauro TM, Ilic D. Petrova A, et al. Among authors: dafou d. Stem Cells Dev. 2016 Sep 15;25(18):1366-75. doi: 10.1089/scd.2016.0156. Epub 2016 Aug 30. Stem Cells Dev. 2016. PMID: 27460132 Free PMC article.
TNF gene cluster deletion abolishes lipopolysaccharide-mediated sensitization of the neonatal brain to hypoxic ischemic insult.
Kendall GS, Hristova M, Horn S, Dafou D, Acosta-Saltos A, Almolda B, Zbarsky V, Rumajogee P, Heuer H, Castellano B, Pfeffer K, Nedospasov SA, Peebles DM, Raivich G. Kendall GS, et al. Among authors: dafou d. Lab Invest. 2011 Mar;91(3):328-41. doi: 10.1038/labinvest.2010.192. Epub 2010 Dec 6. Lab Invest. 2011. PMID: 21135813 Free article.
51 results