Associated Papers
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
41373829 (PubMed )
Supplement: ijms-26-11674-s001.zip › ijms-4008327-supplementary.pdf
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
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M et al.
Journal of Medical Genetics, 2009
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N et al.
American Journal of Respiratory and Critical Care Medicine, 2006
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