Variation in cilia protein genes and progression of lung disease in cystic fibrosis

E Blue, TL Louie, JX Chong, SJ Hebbring… - Annals of the …, 2018 - atsjournals.org
… (eg, DNAH11, DNAH5) are associated with alterations in ciliary … in CF and other chronic
airway disease phenotypes in this … Six of the seven variants associated with lung function in this …

Longitudinal lung volume changes by ultrastructure and genotype in primary ciliary dyskinesia

M Pifferi, A Bush, G Mulé, S Gracci… - Annals of the …, 2021 - atsjournals.org
… hyperinflation increased less in DNAH5 and DNAH11 groups. RV/total lung capacity showed
a significantly … in PCD, which may be a more sensitive index of distal airway disease. …

[HTML][HTML] Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge

M Albalawi, A Al-Shamrani, AS Mohamed… - The American Journal …, 2024 - ncbi.nlm.nih.gov
… However, WGS failed to identify a second variant in the DNAH5 gene, and we were unable
to establish the genetic confirmation of autosomal recessive PCD. We plan to reanalyze the …

A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions

PE Sugier, M Brossard, C Sarnowski, A Vaysse… - Journal of Allergy and …, 2018 - Elsevier
diseases and related phenotypes. A recent GWAS reported significant association of DNAH5
variants with total lung capacity in patients with chronic obstructive pulmonary disease 41 …

[HTML][HTML] Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness

J Joo, ACY Mak, S Xiao, PM Sleiman, D Hu… - Scientific reports, 2022 - nature.com
… record of chronic obstructive pulmonary disease or congestive … an intronic DNAH5 variant
and the lung function measure … link between the associated locus and DNAH5 with BDR has …

[HTML][HTML] The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma

R Shigemasa, H Masuko, H Oshima, K Hyodo… - Plos one, 2024 - journals.plos.org
chronic obstructive airway diseaselung function, and excluding smokers from the analysis
did not significantly change the results. Finally, although DNAH5 was significantly associated

[PDF][PDF] Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey

C Koşukcu - researchgate.net
… PCD genes which are DNAH5 and DNAAF2 (Table 1). … phenotypes, with later onset of cough
and better lung function … weight change in chronic obstructive pulmonary disease: results …

[PDF][PDF] The relationship between genotype and phenotype in primary ciliary dyskinesia patients

AA Kilinc, MN Cebi, Z Ocak… - Sisli Etfal Hastan Tip …, 2021 - jag.journalagent.com
… between BMI and respiratory function indices. Bronchiectasis … [10] Similar to other studies,
DNAH5 was the most common … change in chronic obstructive pulmonary disease: results …

Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations

J Raidt, S Riepenhausen, P Pennekamp… - … Respiratory Journal, 2024 - Eur Respiratory Soc
… clearance leads to chronic mucopurulent airway disease that … in spite of the overall high
involvement of DNAH5, none of its … that PCD lung function outcomes are related to individual …

Lung proteomic biomarkers associated with chronic obstructive pulmonary disease

YH Zhang, MR Hoopmann… - … of Physiology-Lung …, 2021 - journals.physiology.org
… variations in the region may also be associated with total lung capacity in COPD subjects
(35). … DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. …