- Institut für Humangenetik, Universitätsklinikum Bonn
- alopecia
- genetics
- skin disorders
Pasternack SM, von Kügelgen I, Al Aboud K, Lee Y-A, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nature Genet 40:329-334.
Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, DeStefano GM, Moebus S, Böhm M, Blume-Peytavi U, Wolff H, Lutz G, Kruse R, Bian L, Amos CI, Lee A, Gregersen PK, Blaumeiser B, Altshuler D, Clynes D, de Bakker PIW, Nöthen MM, Daly MJ, Christiano AM (2015) Meta-analysis of genome-wide association studies in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun 6:5966.
Basmanav FBÜ, Cau L,* Tafazzoli A,* Méchin M-C,* Wolf S, Romano MT, Valentin F, Wiegmann H, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu A-M, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M,* Betz RC* (2016) Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Am J Hum Genet 99:1292-1304.
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 (2017) PSENEN mutations underlie Dowling-Degos disease associated with acne inversa: J Clin Invest 127:1485-1490.