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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav, F Buket; Cau, Laura; Tafazzoli, Aylar; Méchin, Marie-Claire; Wolf, Sabrina; Romano, Maria Teresa; Valentin, Frederic; Wiegmann, Henning; Huchenq, Anne; Kandil, Rima; Garcia Bartels, Natalie; Kilic, Arzu; George, Susannah; Ralser, Damian J; Bergner, Stefan; Ferguson, David J P; Oprisoreanu, Ana-Maria; Wehner, Maria; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Swan, Daniel; Houniet, Darren; Büchner, Aline; Weibel, Lisa; Wagner, Nicola; Grimalt, Ramon; Bygum, Anette; Serre, Guy; Blume-Peytavi, Ulrike; Sprecher, Eli; Schoch, Susanne; Oji, Vinzenz; Hamm, Henning; Farrant, Paul; Simon, Michel; Betz, Regina C.
Afiliación
  • Ü Basmanav FB; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Neuro- and Sensory Physiology, University Medical Center Göttingen, 37073 Göttingen, Germany; Campus Laboratory for Advanced Imaging, Microscopy and Spectroscopy, University of Göttingen, 37073 Göttingen, Germany.
  • Cau L; CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France.
  • Tafazzoli A; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Méchin MC; CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France.
  • Wolf S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Romano MT; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Valentin F; Department of Dermatology, University of Münster, 48149 Münster, Germany.
  • Wiegmann H; Department of Dermatology, University of Münster, 48149 Münster, Germany.
  • Huchenq A; CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France.
  • Kandil R; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Garcia Bartels N; Clinical Research Center for Hair and Skin Science, Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.
  • Kilic A; Dermatology Department, Balikesir University School of Medicine, 10100 Balikesir, Turkey.
  • George S; Dermatology Department, Brighton and Sussex University Hospitals NHS Trust, Brighton General Hospital, Elm Grove, Brighton BN2 3EW, UK.
  • Ralser DJ; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Bergner S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Ferguson DJP; Nuffield Department of Clinical Laboratory Science, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
  • Oprisoreanu AM; Department of Neuropathology and Department of Epileptology, University of Bonn, 53127 Bonn, Germany.
  • Wehner M; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany.
  • Swan D; Computational Biology Group, Oxford Gene Technology, Oxford OX5 1PF, UK.
  • Houniet D; Computational Biology Group, Oxford Gene Technology, Oxford OX5 1PF, UK.
  • Büchner A; Pediatric Dermatology Department, University Children's Hospital Zurich, University Hospital of Zurich, 8032 Zurich, Switzerland.
  • Weibel L; Pediatric Dermatology Department, University Children's Hospital Zurich, University Hospital of Zurich, 8032 Zurich, Switzerland; Dermatology Department, University Hospital Zurich, 8032 Zurich, Switzerland.
  • Wagner N; Clinical Center Darmstadt, 64297 Darmstadt, Germany.
  • Grimalt R; Universitat Internacional de Catalunya, Sant Cugat del Vallès, 08195 Barcelona, Spain.
  • Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, 5000 Odense, Denmark.
  • Serre G; CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France.
  • Blume-Peytavi U; Clinical Research Center for Hair and Skin Science, Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.
  • Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.
  • Schoch S; Department of Neuropathology and Department of Epileptology, University of Bonn, 53127 Bonn, Germany.
  • Oji V; Department of Dermatology, University of Münster, 48149 Münster, Germany.
  • Hamm H; Department of Dermatology, Venereology, and Allergology, University Hospital Würzburg, 97080 Würzburg, Germany.
  • Farrant P; Dermatology Department, Brighton and Sussex University Hospitals NHS Trust, Brighton General Hospital, Elm Grove, Brighton BN2 3EW, UK.
  • Simon M; CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France.
  • Betz RC; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
Am J Hum Genet ; 99(6): 1292-1304, 2016 Dec 01.
Article en En | MEDLINE | ID: mdl-27866708
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transglutaminasas / Cabello / Enfermedades del Cabello / Hidrolasas / Proteínas de Filamentos Intermediarios / Mutación / Antígenos Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transglutaminasas / Cabello / Enfermedades del Cabello / Hidrolasas / Proteínas de Filamentos Intermediarios / Mutación / Antígenos Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos