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Transcriptional regulator PRDM12 is essential for human pain perception.
Chen, Ya-Chun; Auer-Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting-Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul-Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; McAleer, Maeve A; Cilio, Maria Roberta; McHugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan.
Afiliación
  • Chen YC; 1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Auer-Grumbach M; Department of Orthopaedics, Medical University Vienna, Vienna, Austria.
  • Matsukawa S; Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan.
  • Zitzelsberger M; Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
  • Themistocleous AC; 1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Strom TM; 1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. [2] Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Samara C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Moore AW; Disease Mechanism Research Core, RIKEN Brain Science Institute, Saitama, Japan.
  • Cho LT; Neusentis Research Unit, Pfizer, Cambridge, UK.
  • Young GT; Neusentis Research Unit, Pfizer, Cambridge, UK.
  • Weiss C; Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
  • Schabhüttl M; Department of Orthopaedics, Medical University Vienna, Vienna, Austria.
  • Stucka R; Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
  • Schmid AB; 1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] School of Health and Rehabilitation Sciences, The University of Queensland, St. Lucia, Australia.
  • Parman Y; Department of Neurology, Istanbul University, Istanbul, Turkey.
  • Graul-Neumann L; Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany.
  • Heinritz W; 1] Praxis für Humangenetik Cottbus, Cottbus, Germany. [2] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.
  • Passarge E; 1] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany. [2] Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
  • Watson RM; Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
  • Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Baumgartner M; Neuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz, Linz, Austria.
  • Valente EM; Neurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Pereira D; Departamento de Cirugía Plástica, Hospital Infantil Universitario de San José, Bogotá, Colombia.
  • Restrepo CM; Unidad de Genética, Universidad del Rosario, Bogotá, Colombia.
  • Katona I; Institut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
  • Dusl M; Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
  • Stendel C; 1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Stafford F; 1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Reimann F; Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK.
  • von Au K; SPZ Neuropädiatrie Charité, Universitätsmedizin Berlin, Berlin, Germany.
  • Finke C; CharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich Kinderzahnmedizin, Universitätsmedizin Berlin, Berlin, Germany.
  • Willems PJ; GENDIA (GENetic DIAgnostic Network), Antwerp, Belgium.
  • Nahorski MS; 1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Shaikh SS; 1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Carvalho OP; 1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Nicholas AK; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Karbani G; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
  • McAleer MA; Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
  • Cilio MR; 1] Department of Neurology, University of California San Francisco, San Francisco, California, USA. [2] Department of Neuroscience, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • McHugh JC; Department of Neurology and Neurophysiology, Our Lady's Children's Hospital, Dublin, Ireland.
  • Murphy SM; 1] Department of Neurology, Adelaide &Meath Hospital, Dublin, Ireland. [2] Academic Unit of Neurology, Trinity College, Dublin, Ireland.
  • Irvine AD; 1] Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland. [2] Clinical Medicine, Trinity College, Dublin, Ireland.
  • Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • Windhager R; Department of Orthopaedics, Medical University Vienna, Vienna, Austria.
  • Weis J; Institut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
  • Bergmann C; 1] Center for Human Genetics, Bioscientia, Ingelheim, Germany. [2] Department of Medicine, Renal Division, Freiburg University Medical Center, Freiburg, Germany. [3] Center for Clinical Research, Freiburg University Medical Center, Freiburg, Germany.
  • Rautenstrauss B; 1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] Medizinisch Genetisches Zentrum, Munich, Germany.
  • Baets J; 1] Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. [3] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Nat Genet ; 47(7): 803-8, 2015 Jul.
Article en En | MEDLINE | ID: mdl-26005867
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Portadoras / Percepción del Dolor / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Portadoras / Percepción del Dolor / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article