Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis

Affiliations

• ¹ Institute of Human Genetics, University of Bonn, Bonn, Germany.
• ² Department of Biochemistry and Cell Biology, Institute of Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, USA; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA; Department of Molecular Biochemistry, Nagoya University School of Medicine, Nagoya, Japan.
• ³ Institute of Neuropathology, University of Freiburg, Freiburg, Germany.
• ⁴ Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neuro- and Sensory Physiology, University Medical Center, Göttingen, Göttingen, Germany; Campus Laboratory for Advanced Imaging, Microscopy and Spectroscopy, University of Göttingen, Göttingen, Germany.
• ⁵ Institute of Clinical Chemistry and Clinical Pharmacology, Unit for RNA Biology, University Hospital of Bonn, Bonn, Germany; Department of Microbiology and Immunology, The Peter Doherty Institute for Infection and Immunology, The University of Melbourne, Melbourne, Australia.
• ⁶ Department of Dermatology, Medical University of Graz, Graz, Austria.
• ⁷ Department of Dermatology, Okmeydani Training and Research Hospital, Istanbul, Turkey.
• ⁸ Department of Dermatopathology, St John's Institute of Dermatology, London, United Kingdom.
• ⁹ Department of Dermatology, University of Hamburg-Eppendorf, Hamburg, Germany.
• ¹⁰ Department of Dermatology, Leeds Teaching Hospitals National Health Service Trust, United Kingdom.
• ¹¹ Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
• ¹² Department of Dermatology, Helios Klinikum Hildesheim GmbH, Hildesheim, Germany.
• ¹³ Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
• ¹⁴ Department of Dermatology, Venereology, and Allergology, Medical Faculty, Mannheim, University of Heidelberg, Mannheim, Germany; Department of Dermatology and Allergology, University Hospital of Aachen, RWTH, Aachen, Aachen, Germany.
• ¹⁵ Department of Dermatology, University of Bonn, Bonn, Germany.
• ¹⁶ Department of Dermatology, University of Münster, Münster, Germany.
• ¹⁷ Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• ¹⁸ Institute of Clinical Chemistry and Clinical Pharmacology, Unit for RNA Biology, University Hospital of Bonn, Bonn, Germany.
• ¹⁹ Department of Biochemistry and Cell Biology, Institute of Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, USA; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA.
• ²⁰ Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.