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Cilia

  • RESEARCH ARTICLE
    Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans
    Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
    Disease Models & Mechanisms 2020 : dmm.046631 doi: 10.1242/dmm.046631 Published 4 January 2021
  • RESEARCH ARTICLE
    A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
    Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann
    Disease Models & Mechanisms 2020 13: dmm045344 doi: 10.1242/dmm.045344 Published 30 October 2020

    Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.

  • RESEARCH ARTICLE
    Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice
    Kuniko Nakajima, Michio Ono, Uroš Radović, Selma Dizdarević, Shin-ichi Tomizawa, Kazushige Kuroha, Go Nagamatsu, Ikue Hoshi, Risa Matsunaga, Takayuki Shirakawa, Takeyuki Kurosawa, Yasunari Miyazaki, Masahide Seki, Yutaka Suzuki, Haruhiko Koseki, Masataka Nakamura, Toshio Suda, Kazuyuki Ohbo
    Disease Models & Mechanisms 2019 12: dmm040139 doi: 10.1242/dmm.040139 Published 12 November 2019

    Summary: Wfdc2 is vitally important in preventing atelectasis and dysfunction of barrier mechanisms such as mucociliary clearance, intercellular junction formation and anti-inflammatory activity.

  • RESEARCH ARTICLE
    Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia
    Francesco Chiani, Tiziana Orsini, Alessia Gambadoro, Miriam Pasquini, Sabrina Putti, Maurizio Cirilli, Olga Ermakova, Glauco P. Tocchini-Valentini
    Disease Models & Mechanisms 2019 12: dmm038489 doi: 10.1242/dmm.038489 Published 2 August 2019

    Summary: Ccdc151-knockout mice develop PCD with hydrocephalus, situs abnormalities and male infertility. Novel 3D microCT imaging analysis of the Ccdc151-lacZ reporter gene demonstrates Ccdc151 expression in ependymal cells.

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