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J Invest Dermatol. 2018 Nov 8. pii: S0022-202X(18)32800-8. doi: 10.1016/j.jid.2018.10.030. [Epub ahead of print]

Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis.

Author information

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 NHS 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.
PMID:
30414910
DOI:
10.1016/j.jid.2018.10.030

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