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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

Disclaimer

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