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Page 1
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM. Betz RC, et al. Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2. Am J Hum Genet. 2000. PMID: 10793007 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.
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: betz rc. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
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.
Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.
Jagielska D, Redler S, Brockschmidt FF, Herold C, Pasternack SM, Garcia Bartels N, Hanneken S, Eigelshoven S, Refke M, Barth S, Giehl KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Blume-Peytavi U, Becker T, Nöthen MM, Betz RC. Jagielska D, et al. Among authors: betz rc. J Invest Dermatol. 2012 Sep;132(9):2192-7. doi: 10.1038/jid.2012.129. Epub 2012 Apr 26. J Invest Dermatol. 2012. PMID: 22534877 Free article.
195 results