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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse; Vaaralahti, Kirsi; Liu, Xiaonan; Lodge, Emily J; Tang, Chuyi; Yuan, Lei; Fagerholm, Rainer; Kanters, Jørgen K; Lahermo, Päivi; Kaunisto, Mari; Keski-Filppula, Riikka; Vuoristo, Sanna; Pulli, Kristiina; Ebeling, Tapani; Valanne, Leena; Sankila, Eeva-Marja; Kivirikko, Sirpa; Lääperi, Mitja; Casoni, Filippo; Giacobini, Paolo; Phan-Hug, Franziska; Buki, Tal; Tena-Sempere, Manuel; Pitteloud, Nelly; Veijola, Riitta; Lipsanen-Nyman, Marita; Kaunisto, Kari; Mollard, Patrice; Andoniadou, Cynthia L; Hirsch, Joel A; Varjosalo, Markku; Jespersen, Thomas; Raivio, Taneli.
Afiliação
  • Tommiska J; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Känsäkoski J; Children's Hospital, Pediatric Research Center, Helsinki University Central Hospital (HUCH), 00029, Helsinki, Finland.
  • Skibsbye L; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Vaaralahti K; Department of Biomedical Sciences, University of Copenhagen, 2200, Copenhagen N, Denmark.
  • Liu X; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Lodge EJ; Institute of Biotechnology, Biocenter 3, University of Helsinki, 00014, Helsinki, Finland.
  • Tang C; Centre for Craniofacial and Regenerative Biology, King's College London, Floor 27 Tower Wing, Guy's Campus, London, SE1 9RT, UK.
  • Yuan L; Department of Biomedical Sciences, University of Copenhagen, 2200, Copenhagen N, Denmark.
  • Fagerholm R; Department of Biomedical Sciences, University of Copenhagen, 2200, Copenhagen N, Denmark.
  • Kanters JK; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Lahermo P; Department of Obstetrics and Gynecology, HUCH, 00029, Helsinki, Finland.
  • Kaunisto M; Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen, 22000, Copenhagen, Denmark.
  • Keski-Filppula R; Department of Cardiology, Herlev & Gentofte University Hospitals, University of Copenhagen, 22000, Copenhagen, Denmark.
  • Vuoristo S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science HiLIFE, University of Helsinki, 00014, Helsinki, Finland.
  • Pulli K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science HiLIFE, University of Helsinki, 00014, Helsinki, Finland.
  • Ebeling T; Department of Clinical Genetics, Oulu University Hospital, 90029, Oulu, Finland.
  • Valanne L; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Sankila EM; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Kivirikko S; Department of Medicine, Oulu University Hospital, Finland and Research Unit of Internal Medicine, University of Oulu, 90014, Oulu, Finland.
  • Lääperi M; Helsinki Medical Imaging Center, HUCH, 00029, Helsinki, Finland.
  • Casoni F; Department of Ophthalmology, HUCH, 00029, Helsinki, Finland.
  • Giacobini P; Department of Clinical Genetics, HUCH, 00029, Helsinki, Finland.
  • Phan-Hug F; Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
  • Buki T; Inserm U1172, Jean-Pierre Aubert Research Center, Development and Plasticity of the Neuroendocrine Brain, 59045, Lille, France.
  • Tena-Sempere M; University of Lille, School of Medicine, 59045, Lille, France.
  • Pitteloud N; Inserm U1172, Jean-Pierre Aubert Research Center, Development and Plasticity of the Neuroendocrine Brain, 59045, Lille, France.
  • Veijola R; University of Lille, School of Medicine, 59045, Lille, France.
  • Lipsanen-Nyman M; Pediatrics, Division of Pediatric Endocrinology, Diabetology and Obesity, University Hospital Lausanne (CHUV), 1011, Lausanne, Switzerland.
  • Kaunisto K; Department of Biochemistry and Molecular Biology, George S. Wise Faculty of Life Sciences, Institute of Structural Biology, 69978, Ramat Aviv, Israel.
  • Mollard P; Department of Cell Biology, Physiology and Immunology, University of Córdoba, 14071, Cordoba, Spain.
  • Andoniadou CL; Instituto Maimonides de Investigacion Biomedica (IMIBIC/HURS), 14004, Cordoba, Spain.
  • Hirsch JA; CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Varjosalo M; Pediatrics, Division of Pediatric Endocrinology, Diabetology and Obesity, University Hospital Lausanne (CHUV), 1011, Lausanne, Switzerland.
  • Jespersen T; Department of Children and Adolescents, Oulu University Hospital, 90029, Oulu, Finland.
  • Raivio T; Department of Pediatrics, PEDEGO Research Center, Medical Research Center, University of Oulu, 90014, Oulu, Finland.
Nat Commun ; 8(1): 1289, 2017 11 03.
Article em En | MEDLINE | ID: mdl-29097701
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônio do Crescimento Humano / Mutação de Sentido Incorreto / Canal de Potássio KCNQ1 / Fibromatose Gengival Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônio do Crescimento Humano / Mutação de Sentido Incorreto / Canal de Potássio KCNQ1 / Fibromatose Gengival Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article