SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Sandra Cindric, Gerard W. Dougherty, Heike Olbrich, Rim Hjeij, Niki Tomas Loges, Israel Amirav, Maria C. Philipsen, June K. Marthin, Kim G. Nielsen, Sivagurunathan Sutharsan, Johanna Raidt, Claudius Werner, Petra Pennekamp, Bernd Dworniczak, and Heymut Omran, 20.09.2019
CINDRIĆ, Sandra, et al. SPEF2-and HYDIN-mutant cilia lack the central pair–associated protein SPEF2, aiding primary ciliary dyskinesia diagnostics. American journal of respiratory cell and molecular biology, 2020, 62. Jg., Nr. 3, S. 382-396.
Publication: https://doi.org/10.1165/rcmb.2019-0086OC
Disclaimer
The publication SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics by Sandra Cindric, Gerard W. Dougherty, Heike Olbrich, Rim Hjeij, Niki Tomas Loges, Israel Amirav, Maria C. Philipsen, June K. Marthin, Kim G. Nielsen, Sivagurunathan Sutharsan, Johanna Raidt, Claudius Werner, Petra Pennekamp, Bernd Dworniczak, 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: Analysis of SPEF2, HYDIN mutants
Genome: Genome-wide Association Study
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
189 |
individuals with suspected PCD and situs solitus. |
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0002637: respiratory epithelium cell line |
|
|
Human |
|
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000064: ciliated cell |
|
|
Human |
|
|
Data set 2: Identification of a Homozygous Loss-Of-Function SPEF2 Mutation and Clinical Findings in OP-2013 & study concept
Genome: Targeted Genotyping
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
39 |
Undetectable ciliary SPEF2 localization in 41 individuals, 39 of which underwent diagnostic PCD gene panel sequencing |
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0002637: respiratory epithelium cell line |
|
|
|
|
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0002368: respiratory epithelial cell |
|
|
|
|
|
Data set 3: Identification of New HYDIN Mutations Causing PCD
Genome: Whole Exome Sequencing
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
15 |
15 individuals (13 unrelated families) |
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000081: blood cell |
|
Parental blood for segregation analysis was available from families OP-3022, OP-2108, and OP-1931 |
Human |
|
|
Data set 4: Clinical and Molecular Findings in the Affected Individuals with Mutations in HYDIN
Genome: Immunohistochemistry
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
15 |
All affected individuals had clinical features consistent with PCD, such as recurrent respiratory infection and otitis media |
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0002368: respiratory epithelial cell |
|
|
Human |
|
|
