Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges and Heymut Omran, 03.05.2018
HÖBEN, Inga M., et al. Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to defects of outer and inner dynein arms. The American Journal of Human Genetics, 2018, 102. Jg., Nr. 5, S. 973-984.
Publication: https://doi.org/10.1016/j.ajhg.2018.03.025
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The publication Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms by Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges and Heymut Omran is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1:
Other: Functional Study
Species
Species |
---|
Human |
Conditions
Human phenotype ontology | Participants | Comment |
---|---|---|
HP:0012265: Ciliary dyskinesia |
Tissue Types
BRENDA tissue ontology | Maturity | Description | Species | Replicates |
---|---|---|---|---|
BTO_0000089: blood | Adult | Human |
Cell Types
Cell ontology | Maturity | Description | Species | Replicates | Cells per replicate |
---|---|---|---|---|---|
CL_0000066: epithelial cell | Adult | Nasal epithelial cells and respiratory epithelial cells | Human | ||
CL_0000542: lymphocyte | Adult | Immortalized lymphocytes (EBV cells) | Human | ||
CL_0000019: sperm | Adult | Human |