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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics, Peter; Smith, Cathy; Bando, Hironori; Jorge, Alexander A L; Rockstroh-Lippold, Denise; Vishnopolska, Sebastian A; Castinetti, Frederic; Maksutova, Mariam; Carvalho, Luciani Renata Silveira; Hoppmann, Julia; Martínez Mayer, Julián; Albarel, Frédérique; Braslavsky, Debora; Keselman, Ana; Bergadá, Ignacio; Martí, Marcelo A; Saveanu, Alexandru; Barlier, Anne; Abou Jamra, Rami; Guo, Michael H; Dauber, Andrew; Nakaguma, Marilena; Mendonca, Berenice B; Jayakody, Sajini N; Ozel, A Bilge; Fang, Qing; Ma, Qianyi; Li, Jun Z; Brue, Thierry; Pérez Millán, María Ines; Arnhold, Ivo J P; Pfaeffle, Roland; Kitzman, Jacob O; Camper, Sally A.
Afiliação
  • Gergics P; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Smith C; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109-2218, USA.
  • Bando H; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Jorge AAL; Genetic Endocrinology Unit (LIM25), Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brazil.
  • Rockstroh-Lippold D; Department of Women's and Child Health, Division of Pediatric Endocrinology, University Hospital Leipzig, Leipzig 04103, Germany.
  • Vishnopolska SA; Instituto de Biociencias, Biotecnología y Biología Traslacional, Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Castinetti F; Aix Marseille University, AP-HM, INSERM, Marseille Medical Genetics, Marmara Institute, La Conception Hospital, Department of Endocrinology, Marseille 13005, France.
  • Maksutova M; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Carvalho LRS; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.
  • Hoppmann J; Department of Women's and Child Health, Division of Pediatric Endocrinology, University Hospital Leipzig, Leipzig 04103, Germany.
  • Martínez Mayer J; Instituto de Biociencias, Biotecnología y Biología Traslacional, Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Albarel F; Aix Marseille University, AP-HM, INSERM, Marseille Medical Genetics, Marmara Institute, La Conception Hospital, Department of Endocrinology, Marseille 13005, France.
  • Braslavsky D; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá," FEI - CONICET - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Keselman A; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá," FEI - CONICET - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Bergadá I; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá," FEI - CONICET - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Martí MA; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales CONICET, Pabellòn 2 de Ciudad Universitaria, Ciudad de Buenos Aires, CABA C1428EHA, Argentina.
  • Saveanu A; Aix Marseille University, AP-HM, INSERM, Marseille Medical Genetics, Marmara Institute, La Conception Hospital, Laboratory of Molecular Biology, Marseille 13385, France.
  • Barlier A; Aix Marseille University, AP-HM, INSERM, Marseille Medical Genetics, Marmara Institute, La Conception Hospital, Laboratory of Molecular Biology, Marseille 13385, France.
  • Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Guo MH; Division of Endocrinology, Boston Children's Hospital and Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
  • Dauber A; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Nakaguma M; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.
  • Mendonca BB; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.
  • Jayakody SN; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Ozel AB; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Fang Q; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Ma Q; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Li JZ; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
  • Brue T; Aix Marseille University, AP-HM, INSERM, Marseille Medical Genetics, Marmara Institute, La Conception Hospital, Department of Endocrinology, Marseille 13005, France.
  • Pérez Millán MI; Instituto de Biociencias, Biotecnología y Biología Traslacional, Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, CABA CE1428EHA, Argentina.
  • Arnhold IJP; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.
  • Pfaeffle R; Department of Women's and Child Health, Division of Pediatric Endocrinology, University Hospital Leipzig, Leipzig 04103, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Kitzman JO; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109-2218, USA. Electronic address: kitzmanj@umich.edu.
  • Camper SA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA. Electronic address: scamper@med.umich.edu.
Am J Hum Genet ; 108(8): 1526-1539, 2021 08 05.
Article em En | MEDLINE | ID: mdl-34270938
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônios Hipofisários / Splicing de RNA / Fator de Transcrição Pit-1 / Ensaios de Triagem em Larga Escala / Hipopituitarismo / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônios Hipofisários / Splicing de RNA / Fator de Transcrição Pit-1 / Ensaios de Triagem em Larga Escala / Hipopituitarismo / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article