Associated Papers
Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.
Nussstein H et al.
The European Respiratory Journal, 2026
40967762 (PubMed )
Supplement: ERJ-00616-2025.Supplement.pdf
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
Ito M et al.
Internal Medicine (tokyo, Japan), 2025
A novel pathogenic variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia.
Rabiasz A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.
Shi S et al.
Andrology, 2025
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.
Zlotina A et al.
Orphanet Journal of Rare Diseases, 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
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N et al.
Erj Open Research, 2023
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
Li Y et al.
Journal of Assisted Reproduction and Genetics, 2023
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
Horani A et al.
Plos One, 2013
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E et al.
American Journal of Human Genetics, 2012
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