Associated Papers
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Structure of the radial spoke head and insights into its role in mechanoregulation of ciliary beating.
Grossman-Haham I et al.
Nature Structural & Molecular Biology, 2021
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus.
Yiallouros PK et al.
Journal of Thoracic Disease, 2019
Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability.
Zhu L et al.
Biology of the Cell, 2019
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A et al.
American Journal of Respiratory Cell and Molecular Biology, 2015
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