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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Farooq, Muhammad; Lindbæk, Louise; Krogh, Nicolai; Doganli, Canan; Keller, Cecilie; Mönnich, Maren; Gonçalves, André Brás; Sakthivel, Srinivasan; Mang, Yuan; Fatima, Ambrin; Andersen, Vivi Søgaard; Hussain, Muhammad S; Eiberg, Hans; Hansen, Lars; Kjaer, Klaus Wilbrandt; Gopalakrishnan, Jay; Pedersen, Lotte Bang; Møllgård, Kjeld; Nielsen, Henrik; Baig, Shahid M; Tommerup, Niels; Christensen, Søren Tvorup; Larsen, Lars Allan.
Afiliación
  • Farooq M; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Lindbæk L; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Baghdad ul Jadeed Campus, 63100, Bahawalpur, Punjab, Pakistan.
  • Krogh N; Department of Biology, University of Copenhagen, Universitetsparken 13, DK-2100, Copenhagen, Denmark.
  • Doganli C; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Keller C; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Mönnich M; Department of Biology, University of Copenhagen, Universitetsparken 13, DK-2100, Copenhagen, Denmark.
  • Gonçalves AB; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Sakthivel S; Department of Biology, University of Copenhagen, Universitetsparken 13, DK-2100, Copenhagen, Denmark.
  • Mang Y; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Fatima A; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Andersen VS; Human Molecular Genetics Laboratory; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering PIEAS, Jhang Road, 38000, Faisalabad, Punjab, Pakistan.
  • Hussain MS; Department of Biology, University of Copenhagen, Universitetsparken 13, DK-2100, Copenhagen, Denmark.
  • Eiberg H; Institute of Biochemistry I, University of Cologne, Joseph-Stelzmann-Strasse 52, D50931, Cologne, Germany.
  • Hansen L; Cologne Center for Genomics and Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Strasse 21, D50931, Cologne, Germany.
  • Kjaer KW; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Gopalakrishnan J; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Pedersen LB; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Møllgård K; Institute of Human Genetics, Universitätsstrasse 1, Heinrich-Heine-University, D-40225, Düsseldorf, Germany.
  • Nielsen H; Department of Biology, University of Copenhagen, Universitetsparken 13, DK-2100, Copenhagen, Denmark.
  • Baig SM; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
  • Christensen ST; Human Molecular Genetics Laboratory; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering PIEAS, Jhang Road, 38000, Faisalabad, Punjab, Pakistan.
  • Larsen LA; Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark.
Nat Commun ; 11(1): 5816, 2020 11 16.
Article en En | MEDLINE | ID: mdl-33199730

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ribosomas / Biogénesis de Organelos / Cilios / Proteínas de Unión al ARN / Neurogénesis / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Dinamarca

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ribosomas / Biogénesis de Organelos / Cilios / Proteínas de Unión al ARN / Neurogénesis / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Dinamarca