Professur für Dermatogenetik: Struktur, Funktion und Regulation der Entwicklung des Haarwachstums: Aufklärung der Ursachen von monogen und genetisch komplex vererbten Alopezien

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Projektbezogene Publikationen (Auswahl)

• 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.
  
• 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.
  
• 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.
  
• 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.