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Page 1
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: fritz g. 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.
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Basmanav FBÜ, Wolf S, Thiele H, Altmüller J, Nürnberg P, Oji V, Fritz G, Frank J, Betz RC. Ralser DJ, et al. Among authors: fritz g. Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29. Br J Dermatol. 2017. PMID: 29192958 No abstract available.
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: fritz g. 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.
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Ralser DJ, Takeuchi H, Fritz G, Basmanav FB, Effern M, Sivalingam S, El-Shabrawi-Caelen L, Degirmentepe EN, Kocatürk E, Singh M, Booken N, Spierings NMK, Schnabel V, Heineke A, Knuever J, Wolf S, Wehner M, Tronnier M, Leverkus M, Tantcheva-Poór I, Wenzel J, Oji V, Has C, Hölzel M, Frank J, Haltiwanger RS, Betz RC. Ralser DJ, et al. Among authors: fritz g. J Invest Dermatol. 2019 Apr;139(4):960-964. doi: 10.1016/j.jid.2018.10.030. Epub 2018 Nov 9. J Invest Dermatol. 2019. PMID: 30414910 Free PMC article. No abstract available.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Basmanav FB, et al. Among authors: fritz g. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
616 results