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Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseoğlu V, Rossbach HC, Gissen P, Tannahill D, Maher ER. Morgan NV, et al. Among authors: gentle d. PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833. PLoS Genet. 2010. PMID: 20140240 Free PMC article.
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
Astuti D, Ricketts CJ, Chowdhury R, McDonough MA, Gentle D, Kirby G, Schlisio S, Kenchappa RS, Carter BD, Kaelin WG Jr, Ratcliffe PJ, Schofield CJ, Latif F, Maher ER. Astuti D, et al. Among authors: gentle d. Endocr Relat Cancer. 2010 Dec 21;18(1):73-83. doi: 10.1677/ERC-10-0113. Print 2011 Feb. Endocr Relat Cancer. 2010. PMID: 20959442 Free PMC article.
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER. Astuti D, et al. Among authors: gentle d. Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071. Nat Genet. 2012. PMID: 22306653
62 results