Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Autor: Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.

Publikováno v: In The American Journal of Human Genetics 2 January 2014 94(1):62-72

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Referee report. For: Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved]

Autor: Hua, Kiet, Ferland, Russell J.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::46930e5fb70511422e30dcbae23d8a10

Fixation methods and immunolabeling for cilia proteins in ciliary and extraciliary locations.

Autor: Hua K; Montefiore Medical Center, Albert Einstein College of Medicine, Department of Neurology, Bronx, NY, United States. Electronic address: khua@montefiore.org., Ferland RJ; University of New England, College of Osteopathic Medicine, Department of Biomedical Sciences, Biddeford, ME, United States. Electronic address: rferland2@une.edu.

Publikováno v: Methods in cell biology [Methods Cell Biol] 2023; Vol. 176, pp. 43-57. Date of Electronic Publication: 2023 Feb 24.