Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Autor: Schlaweck AE; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Tazi-Ahnini R; Department of Infection, Immunity, and Cardiovascular Disease, The Medical School, University of Sheffield, Sheffield, United Kingdom., Ü Basmanav FB; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Mohungoo J; Department of Dermatology, Royal Hallamshire Hospital, Sheffield, United Kingdom., Pasternack-Ziach SM; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Mattheisen M; Department of Psychiatry, Psychosomatics, and Psychotherapy, University Hospital Würzburg, Würzburg, Germany., Oprisoreanu AM; Department of Neuropathology and Department of Epileptology, University Hospital Bonn, Bonn, Germany., Humbatova A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Wolf S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Messenger A; Department of Dermatology, Royal Hallamshire Hospital, Sheffield, United Kingdom., Betz RC; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.

Publikováno v: PloS one [PLoS One] 2019 Dec 02; Vol. 14 (12), pp. e0225943. Date of Electronic Publication: 2019 Dec 02 (Print Publication: 2019).

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Autor: 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.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Dec 01; Vol. 99 (6), pp. 1292-1304. Date of Electronic Publication: 2016 Nov 17.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Autor: Basmanav FB; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Oprisoreanu AM; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany., Pasternack SM; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany., Fritz G; Department of Neuropathology, Neurozentrum, University of Freiburg, D-79106 Freiburg, Germany., Wenzel J; Department of Dermatology, University of Bonn, D-53127 Bonn, Germany., Größer L; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany., Wehner M; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Wolf S; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, DK-5000 Odense, Denmark., Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany., Rütten A; Laboratory of Dermatohistopathology, D-88048 Friedrichshafen, Germany., Parmentier L; Department of Dermatology, Berne University Hospital, CH-3008 Berne, Switzerland., El Shabrawi-Caelen L; Department of Dermatology, Medical University of Graz, A-8036 Graz, Austria., Hafner C; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany; Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany., Kruse R; Dermatological Practice, D-33098 Paderborn, Germany., Schoch S; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany., Hanneken S; Department of Dermatology, University Hospital Düsseldorf, D-40225 Düsseldorf, Germany., Betz RC; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 Jan 02; Vol. 94 (1), pp. 135-43.