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Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R. Betz RC, et al. Among authors: rutten a. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19. Am J Hum Genet. 2006. PMID: 16465624 Free PMC article.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Basmanav FB, et al. Among authors: rutten a. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003. Am J Hum Genet. 2014. PMID: 24387993 Free PMC article.
The expanding spectrum of Galli-Galli disease.
El Shabrawi-Caelen L, Rütten A, Kerl H. El Shabrawi-Caelen L, et al. Among authors: rutten a. J Am Acad Dermatol. 2007 May;56(5 Suppl):S86-91. doi: 10.1016/j.jaad.2006.10.987. J Am Acad Dermatol. 2007. PMID: 17434047 Review.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Buket Basmanav F, et al. Among authors: rutten a. J Invest Dermatol. 2015 Feb;135(2):615-618. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. J Invest Dermatol. 2015. PMID: 25229252 Free article. No abstract available.
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rütten A, Kruse R. Mangold E, et al. Among authors: rutten a. Br J Dermatol. 2007 Jan;156(1):158-62. doi: 10.1111/j.1365-2133.2006.07607.x. Br J Dermatol. 2007. PMID: 17199584 No abstract available.
484 results