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Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu, Thandiswa; Oti, Martin; Sitek, Jan C; Haukanes, Bjørn I; Linghu, Bolan; Bruccoleri, Robert; Stokowy, Tomasz; Oakeley, Edward J; Yang, Fan; Zhu, Jiang; Sultan, Marc; Schalkwijk, Joost; van Vlijmen-Willems, Ivonne M J J; von der Lippe, Charlotte; Brunner, Han G; Ersland, Kari M; Grayson, Wayne; Buechmann-Moller, Stine; Sundnes, Olav; Nirmala, Nanguneri; Morgan, Thomas M; van Bokhoven, Hans; Steen, Vidar M; Hull, Peter R; Szustakowski, Joseph; Staedtler, Frank; Zhou, Huiqing; Fiskerstrand, Torunn; Ramsay, Michele.
Afiliación
  • Ngcungcu T; Division of Human Genetics, School of Pathology and the Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.
  • Oti M; Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen 6525 GA, the Netherlands; Carlos Chagas Filho Biophysics Institute, Federal University of Rio de Janeiro, Rio de Janeiro 21941-902, Brazil.
  • Sitek JC; Department of Dermatology, Oslo University Hospital, Oslo 0424, Norway; Centre for Rare Disorders, Oslo University Hospital, Oslo 0424, Norway.
  • Haukanes BI; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.
  • Linghu B; Computational Biomedicine, WRD Genome Sciences & Technologies, Pfizer Worldwide R&D, Cambridge, MA 02139, USA.
  • Bruccoleri R; Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA; Congenomics, Glastonbury, CT 06033, USA.
  • Stokowy T; Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
  • Oakeley EJ; Novartis Institutes for BioMedical Research, Basel 4056, Switzerland.
  • Yang F; Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA.
  • Zhu J; Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA.
  • Sultan M; Novartis Institutes for BioMedical Research, Basel 4056, Switzerland.
  • Schalkwijk J; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
  • van Vlijmen-Willems IMJJ; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
  • von der Lippe C; Centre for Rare Disorders, Oslo University Hospital, Oslo 0424, Norway.
  • Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands; Maastricht UMC, Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht 6202 AZ, the Netherlands.
  • Ersland KM; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway; Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
  • Grayson W; School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and Ampath National Laboratories, Johannesburg 2193, South Africa.
  • Buechmann-Moller S; Novartis Institutes for BioMedical Research, Basel 4056, Switzerland.
  • Sundnes O; Department of Dermatology, Oslo University Hospital, Oslo 0424, Norway; Laboratory for Immunohistochemistry and Immunopathology, Department of Pathology, Oslo University Hospital, Oslo 0424, Norway.
  • Nirmala N; Institute for Clinical Research and Policy Studies, Tufts University School of Medicine, Boston, MA 02111, USA.
  • Morgan TM; Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA.
  • van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
  • Steen VM; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway; Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
  • Hull PR; Division of Clinical Dermatology and Cutaneous Science, Dalhousie University, Halifax, NS B3H 1V7, Canada.
  • Szustakowski J; Translational Medicine, Bristol-Myers Squibb, Pennington, NJ 08534, USA.
  • Staedtler F; Novartis Institutes for BioMedical Research, Basel 4056, Switzerland.
  • Zhou H; Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen 6525 GA, the Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
  • Fiskerstrand T; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway; Department of Clinical Science, University of Bergen, Bergen 5020, Norway. Electronic address: torunn.fiskerstrand@helse-bergen.no.
  • Ramsay M; Division of Human Genetics, School of Pathology and the Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa. Electronic address: michele.ramsay@wits.ac.za.
Am J Hum Genet ; 100(5): 737-750, 2017 May 04.
Article en En | MEDLINE | ID: mdl-28457472
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Catepsina B / Regulación de la Expresión Génica / Elementos de Facilitación Genéticos / Duplicación de Gen / Eritema / Queratosis Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Africa / Europa Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Catepsina B / Regulación de la Expresión Génica / Elementos de Facilitación Genéticos / Duplicación de Gen / Eritema / Queratosis Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Africa / Europa Idioma: En Año: 2017 Tipo del documento: Article