Associated Papers
Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5.
Ostrowski LE et al.
Erj Open Research, 2026
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
Jat KR et al.
Clinical Genetics, 2024
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
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
Comparative whole-genome resequencing to uncover selection signatures linked to litter size in Hu Sheep and five other breeds.
Zhong T et al.
Bmc Genomics, 2024
Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia.
Marthin JK et al.
Erj Open Research, 2023
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Cannarella R et al.
International Journal of Molecular Sciences, 2023
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Luongo FP et al.
Frontiers in Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.
Legendre M et al.
Annals of the American Thoracic Society, 2022
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Raidt J et al.
Annals of the American Thoracic Society, 2022
Lessons learnt from prenatal exome sequencing.
Chandler NJ et al.
Prenatal Diagnosis, 2022
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Lee DDH et al.
The European Respiratory Journal, 2021
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Xiong Y et al.
Journal of Cellular and Molecular Medicine, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Ccdc103 promotes myeloid cell proliferation and migration independent of motile cilia.
Falkenberg LG et al.
Disease Models & Mechanisms, 2021
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia.
Burwick RM et al.
Journal of Clinical Ultrasound : Jcu, 2021
PCD Detect: enhancing ciliary features through image averaging and classification.
Shoemark A et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2020
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).
Shoemark A et al.
The European Respiratory Journal, 2020
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites.
King SM et al.
Cytoskeleton (hoboken, N.j.), 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
Pereira R et al.
Journal of Assisted Reproduction and Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin J et al.
Frontiers in Genetics, 2019
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.
Sanders CD et al.
Pediatric Pulmonology, 2018
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Shoemark A et al.
Thorax, 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
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR et al.
G3 (bethesda, Md.), 2015
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
Casey JP et al.
Bmc Medical Genetics, 2015
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
Praveen K et al.
F1000prime Reports, 2015
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
D'Andrea G et al.
Blood, 2013
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi JR et al.
Nature Genetics, 2012
Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.
Dixon M et al.
Ultrastructural Pathology, 0
A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.
Zubair M et al.
Asian Journal of Andrology, 0