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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck, Guntram; Hög, Friederike; Dentici, Maria Lisa; Tan, Perciliz L; Sowada, Nadine; Medeira, Ana; Gueneau, Lucie; Thiele, Holger; Kousi, Maria; Lepri, Francesca; Wenzeck, Larissa; Blumenthal, Ian; Radicioni, Antonio; Schwarzenberg, Tito Livio; Mandriani, Barbara; Fischetto, Rita; Morris-Rosendahl, Deborah J; Altmüller, Janine; Reymond, Alexandre; Nürnberg, Peter; Merla, Giuseppe; Dallapiccola, Bruno; Katsanis, Nicholas; Cramer, Patrick; Kubisch, Christian.
Afiliação
  • Borck G; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; guntram.borck@uni-ulm.de.
  • Hög F; Gene Center Munich and Department of Biochemistry, Center for Integrated Protein Science CIPSM, Ludwig-Maximilians-Universität München, 81377 Munich, Germany;
  • Dentici ML; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy;
  • Tan PL; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27710, USA;
  • Sowada N; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany;
  • Medeira A; Serviço de Genética, Departamento de Pediatria, Hospital S. Maria, CHLN, 1649-035 Lisboa, Portugal;
  • Gueneau L; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland;
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany;
  • Kousi M; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27710, USA;
  • Lepri F; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy;
  • Wenzeck L; Gene Center Munich and Department of Biochemistry, Center for Integrated Protein Science CIPSM, Ludwig-Maximilians-Universität München, 81377 Munich, Germany;
  • Blumenthal I; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;
  • Radicioni A; Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy;
  • Schwarzenberg TL; Department of Neonatology, Sapienza University, 00161 Rome, Italy;
  • Mandriani B; IRCCS Casa Sollievo Della Sofferenza, Medical Genetics Unit, 71013 San Giovanni Rotondo, Italy; PhD Program, Molecular Genetics applied to Medical Sciences, University of Brescia, 25121 Brescia, Italy;
  • Fischetto R; U.O. Malattie Metaboliche PO Giovanni XXIII, AOU Policlinico Consorziale, 70120 Bari, Italy;
  • Morris-Rosendahl DJ; Genomic Medicine, National Heart and Lung Institute, Imperial College, London SW3 6LY, United Kingdom;
  • Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Institute for Human Genetics, University of Cologne, 50931 Cologne, Germany;
  • Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland;
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Co
  • Merla G; IRCCS Casa Sollievo Della Sofferenza, Medical Genetics Unit, 71013 San Giovanni Rotondo, Italy;
  • Dallapiccola B; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy;
  • Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27710, USA;
  • Cramer P; Max Planck Institute for Biophysical Chemistry, Department of Molecular Biology, 37077 Göttingen, Germany;
  • Kubisch C; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Genome Res ; 25(2): 155-66, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25561519
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transcrição Gênica / Anormalidades Múltiplas / RNA Polimerase III / Fatores Associados à Proteína de Ligação a TATA / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transcrição Gênica / Anormalidades Múltiplas / RNA Polimerase III / Fatores Associados à Proteína de Ligação a TATA / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article