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Page 1
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: betz rc. 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.
Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.
Betz RC, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S, Kortüm AK, Tüting T, Lambert J, De Weert J, Hillmer AM, Schmael C, Wienker TF, Kruse R, Lutz G, Blaumeiser B, Nöthen MM. Betz RC, et al. J Invest Dermatol. 2007 Nov;127(11):2539-43. doi: 10.1038/sj.jid.5700915. Epub 2007 Jun 21. J Invest Dermatol. 2007. PMID: 17581619 Free article.
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH. Oeffner F, et al. Among authors: betz rc. Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014. Am J Hum Genet. 2009. PMID: 19361614 Free PMC article.
The TRAF1/C5 locus confers risk for familial and severe alopecia areata.
Redler S, Brockschmidt FF, Forstbauer L, Giehl KA, Herold C, Eigelshoven S, Hanneken S, De Weert J, Lutz G, Wolff H, Kruse R, Blaumeiser B, Böhm M, Becker T, Nöthen MM, Betz RC. Redler S, et al. Among authors: betz rc. Br J Dermatol. 2010 Apr;162(4):866-9. doi: 10.1111/j.1365-2133.2009.09598.x. Epub 2009 Dec 17. Br J Dermatol. 2010. PMID: 20030635
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC. Forstbauer LM, et al. Among authors: betz rc. Eur J Hum Genet. 2012 Mar;20(3):326-32. doi: 10.1038/ejhg.2011.185. Epub 2011 Oct 26. Eur J Hum Genet. 2012. PMID: 22027810 Free PMC article.
Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss.
Redler S, Brockschmidt FF, Tazi-Ahnini R, Drichel D, Birch MP, Dobson K, Giehl KA, Herms S, Refke M, Kluck N, Kruse R, Lutz G, Wolff H, Böhm M, Becker T, Nöthen MM, Messenger AG, Betz RC. Redler S, et al. Among authors: betz rc. Br J Dermatol. 2012 Jun;166(6):1314-8. doi: 10.1111/j.1365-2133.2012.10877.x. Br J Dermatol. 2012. PMID: 22309448
195 results