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Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Ralser, Damian J; Takeuchi, Hideyuki; Fritz, Günter; Basmanav, F Buket; Effern, Maike; Sivalingam, Sugirthan; El-Shabrawi-Caelen, Laila; Degirmentepe, Ece N; Kocatürk, Emek; Singh, Manuraj; Booken, Nina; Spierings, Natalia M K; Schnabel, Viktor; Heineke, Andre; Knuever, Jana; Wolf, Sabrina; Wehner, Maria; Tronnier, Michael; Leverkus, Martin; Tantcheva-Poór, Iliana; Wenzel, Jörg; Oji, Vinzenz; Has, Cristina; Hölzel, Michael; Frank, Jorge; Haltiwanger, Robert S; Betz, Regina C.
Afiliação
  • Ralser DJ; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Takeuchi H; 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,
  • Fritz G; Institute of Neuropathology, University of Freiburg, Freiburg, Germany.
  • Basmanav FB; 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.
  • Effern M; 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.
  • Sivalingam S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • El-Shabrawi-Caelen L; Department of Dermatology, Medical University of Graz, Graz, Austria.
  • Degirmentepe EN; Department of Dermatology, Okmeydani Training and Research Hospital, Istanbul, Turkey.
  • Kocatürk E; Department of Dermatology, Okmeydani Training and Research Hospital, Istanbul, Turkey.
  • Singh M; Department of Dermatopathology, St John's Institute of Dermatology, London, United Kingdom.
  • Booken N; Department of Dermatology, University of Hamburg-Eppendorf, Hamburg, Germany.
  • Spierings NMK; Department of Dermatology, Leeds Teaching Hospitals National Health Service Trust, United Kingdom.
  • Schnabel V; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
  • Heineke A; Department of Dermatology, Helios Klinikum Hildesheim GmbH, Hildesheim, Germany.
  • Knuever J; Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
  • Wolf S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Wehner M; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Tronnier M; Department of Dermatology, Helios Klinikum Hildesheim GmbH, Hildesheim, Germany.
  • Leverkus M; 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.
  • Tantcheva-Poór I; Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
  • Wenzel J; Department of Dermatology, University of Bonn, Bonn, Germany.
  • Oji V; Department of Dermatology, University of Münster, Münster, Germany.
  • Has C; Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Hölzel M; Institute of Clinical Chemistry and Clinical Pharmacology, Unit for RNA Biology, University Hospital of Bonn, Bonn, Germany.
  • Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
  • Haltiwanger RS; 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.
  • Betz RC; Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
J Invest Dermatol ; 139(4): 960-964, 2019 04.
Article em En | MEDLINE | ID: mdl-30414910
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Glucosiltransferases / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Glucosiltransferases / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article