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
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
The lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein.
Rabiasz A et al.
Genes & Diseases, 2025
Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.
Novák J et al.
Basic and Clinical Andrology, 2024
Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.
Kamenarova K et al.
Scientific Reports, 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
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Seidel F et al.
Journal of Cardiovascular Development and Disease, 2022
The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.
Smith AJ et al.
Journal of Cell Science, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia.
Dabrowski M et al.
International Journal of Molecular Sciences, 2021
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.
Subaran RL et al.
Human Mutation, 2020
Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.
Nyilas S et al.
Annals of the American Thoracic Society, 2018
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
Boaretto F et al.
The Journal of Molecular Diagnostics : Jmd, 2016
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2016
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR et al.
American Journal of Human Genetics, 2013