Professorship for Dermatogenetics: Structure, function, and regulation of the development of hair growth: Elucidation of the bases of monogenic and genetically complex forms of inherited alopecias

• Applicant: Professorin Dr. Regina Christine Betz
• Subject Area: Human Genetics
• Term: from 2010 to 2016
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 171109789

• Final Report Year: 2017

Final Report Abstract

No abstract available

Publications

• Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal dominant Dowling-Degos disease. American Journal of Human Genetics, Vol. 94. 2014, Issue 1, pp. 135-143.
  Basmanav F.B., Oprisoreanu A.M., Pasternack S. M., Thiele H., Fritz G., Wenzel J., Größer L., Wehner M., Wolf S., Fagerberg C., Bygum A., Altmüller J., Rütten A., Parmentier L., El Shabrawi-Caelen L., Hafner C., Nürnberg P., Kruse R., Schoch S., Hanneken S., Betz R.C.
  (See online at https://doi.org/10.1016/j.ajhg.2013.12.003)
• Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. American Journal of Medical Genetics Part A, Vol. 167. 2015, Issue 11, pp. 2555-2562.
  Gollasch B., Basmanav F.B., Nanda A., Fritz G., Mahmoudi H., Thiele H., Wehner M., Wolf S., Altmüller J., Nürnberg P., Frank J., Betz R.C.
  (See online at https://doi.org/10.1002/ajmg.a.37233)
• Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. American Journal of Human Genetics, Vol. 99. 2016, Issue 6, pp. 1292-1304.
  Basmanav F.B.Ü., Cau L., Tafazzoli A., Méchin M.-C., Wolf S., Oprisoreanu A.-M., Wehner M., et al.
  (See online at https://doi.org/10.1016/j.ajhg.2016.10.004)
• Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Wxperimental Dermatology, Vol. 26. 2017, Issue 6 (Special Issue: Focus theme issue: Hair follicle biology and pathology), pp. pp. 536-541.
  Fischer J., Degenhardt F., Hofmann A., Redler S., Basmanav F.B., Heilmann-Heimbach S., et al.
  (See online at https://doi.org/10.1111/exd.13123)