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Phenotype diversity associated with TP63 mutations.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: frank j. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. J Dtsch Dermatol Ges. 2022. PMID: 35593033 No abstract available.
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J. Poblete Gutiérrez P, et al. Among authors: frank j. J Invest Dermatol. 2002 Aug;119(2):527-31. doi: 10.1046/j.1523-1747.2002.01839.x. J Invest Dermatol. 2002. PMID: 12190880 Free article.
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: frank j. 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.
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC. Ralser DJ, et al. Among authors: frank j. J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13. J Clin Invest. 2017. PMID: 28287404 Free PMC article.
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: frank j. 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.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Among authors: frank j. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 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: frank j. 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.
3,530 results