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
Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis.
Kahraman FU et al.
Birth Defects Research, 2025
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
38837151 (PubMed )
Supplement: sj-pdf-4-gtm-10.1089_gtmb.2023.0263.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
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Wilken A et al.
Cells, 2024
39056782 (PubMed )
Supplement: cells-13-01200-s001.zip › cells-3014467-supplementary.pdf
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L et al.
Medicine, 2021
A Study on the Genetics of Primary Ciliary Dyskinesia.
Alsamri MT et al.
Journal of Clinical Medicine, 2021
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW et al.
Nature Communications, 2020
33139725 (PubMed )
Supplement: 41467_2020_19113_MOESM2_ESM.pdf
Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.
Andjelkovic M et al.
Plos One, 2018
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W et al.
The Clinical Respiratory Journal, 2016
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A et al.
Nature Genetics, 2011
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