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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. 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.
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.
Richner-Hanhart syndrome detected by expanded newborn screening.
Meissner T, Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E. Meissner T, et al. Among authors: betz rc. Pediatr Dermatol. 2008 May-Jun;25(3):378-80. doi: 10.1111/j.1525-1470.2008.00687.x. Pediatr Dermatol. 2008. PMID: 18577048
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.
190 results