Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Autor: Cesarato N; Institute of Human Genetics and., Schwieger-Briel A; Department of Pediatric Dermatology, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany., Gossmann Y; Institute of Human Genetics and., Henne SK; Institute of Human Genetics and., Hillmann K; Department of Dermatology, Venereology and Allergology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Frommherz LH; Department of Dermatology and Allergy, Ludwig-Maximilian-University of Munich, Munich, Germany., Wehner M; Institute of Human Genetics and., Xiong X; Institute of Human Genetics and., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Oji V; Department of Dermatology, University Hospital of Muenster, Muenster, Germany., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Tantcheva-Poor I; Department of Dermatology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Giehl K; Department of Dermatology and Allergy, Ludwig-Maximilian-University of Munich, Munich, Germany., Fölster-Holst R; Department of Dermatology, Venereology and Allergology, University Hospital Schleswig-Holstein, Kiel, Germany., Teichler A; Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany., Braeckmans D; Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany., Hoeger PH; Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany., Jones G; Clinical Genetics Department, Nottingham University Hospitals NHS Trust, Nottingham, UK., Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany., Weibel L; Department of Pediatric Dermatology, University Children's Hospital Zurich, Zurich, Switzerland., Blume-Peytavi U; Department of Dermatology, Venereology and Allergology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Hamm H; Department of Dermatology, Venereology, and Allergology, University Hospital Würzburg, Würzburg, Germany., Nöthen MM; Institute of Human Genetics and., Geyer M; Institute of Structural Biology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Heilmann-Heimbach S; Institute of Human Genetics and., Basmanav FB; Institute of Human Genetics and., Betz RC; Institute of Human Genetics and.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2023 Nov 16; Vol. 189 (6), pp. 741-749.

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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Autor: Basmanav FB; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Cesarato N; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Kumar S; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Borisov O; Institute for Genomic Statistics and Bioinformatics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Kokordelis P; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Ralser DJ; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Wehner M; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Axt D; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Xiong X; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Dolgin V; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel.; Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Gossmann Y; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Fricker N; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Dewenter MK; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Weller K; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, England, United Kingdom., Reichenbach H; MVZ Mitteldeutscher Praxisverbund Humangenetik, Praxis Leipzig, Leipzig, Germany., Oji V; Department of Dermatology, University of Münster, Münster, Germany., Addor MC; Department of Woman-Mother-Child, University Hospital Center CHUV CH 1011, Lausanne, Switzerland., Ramirez K; Neurología Pediátrica, Division de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, England, United Kingdom., Garcia Bartels N; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Weibel L; Pediatric Dermatology Department, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.; Dermatology Department, University Hospital Zurich, Zurich, Switzerland., Wagner N; Department of Dermatology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany., George S; Dermatology Department, Brighton General Hospital, University Hospitals Sussex NHS Foundation Trust, Brighton, England, United Kingdom., Kilic A; Department of Dermatology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey., Tantcheva-Poor I; Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany., Stewart A; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, South Yorkshire, England, United Kingdom., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Blaumeiser B; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Medvecz M; Department of Dermatology, Venereology, and Dermatooncology, Semmelweis University, Budapest, Hungary., Blume-Peytavi U; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Farrant P; Dermatology Department, Brighton General Hospital, University Hospitals Sussex NHS Foundation Trust, Brighton, England, United Kingdom., Grimalt R; Universitat Internacional de Catalunya, Barcelona, Spain., Bertok S; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre, Ljubljana, Slovenia., Bradley L; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Eskin-Schwartz M; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel., Birk OS; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Institute, University of Southern Denmark, Odense, Denmark., Simon M; Toulouse Institute for Infectious and Inflammatory diseases, Toulouse University, Toulouse, France.; CNRS, Inserm, Paul Sabatier Toulouse III University, Toulouse, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany., Fischer C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hamm H; Department of Dermatology, Venereology, and Allergology, University Hospital Würzburg, Würzburg, Germany., Fritz G; Department of Cellular Microbiology, University of Hohenheim, Stuttgart, Germany., Betz RC; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.

Publikováno v: JAMA dermatology [JAMA Dermatol] 2022 Nov 01; Vol. 158 (11), pp. 1245-1253.

065 Evaluating pathogenicity of skin autoantibodies in hereditary epidermolysis bullosa hints towards predisposition of autoimmunity

Autor: Lehr, S., Felber, F., Tantcheva-Poor, I., Keßler, C., Eming, R., Nyström, A., Rizzi, M., Kiritsi, D.

Publikováno v: In Journal of Investigative Dermatology December 2022 142(12) Supplement:S191-S191