Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.
Zhou Y et al.
Genes, 2024
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
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I et al.
Frontiers in Genetics, 2023
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.
Cannarella R et al.
Frontiers in Genetics, 2020
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J et al.
The European Respiratory Journal, 2014
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
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S et al.
Journal of Medical Genetics, 2012
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille AC et al.
Nature Genetics, 2011
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