Dynein dysfunction as a cause of primary ciliary dyskinesia and other ciliopathies
NT Loges, H Omran - Dyneins: structure, biology and disease, 2018 - Elsevier
… obstructive airway disease). Due to the … a more severe clinical course with rapid decline
of lung function [66]. … Consistently in patients with DNAH5 mutations, the DNAH5 protein is …
of lung function [66]. … Consistently in patients with DNAH5 mutations, the DNAH5 protein is …
Cigarette smoking induces changes in airway epithelial expression of genes associated with monogenic lung disorders
… of disease (normal lung function [FEV 1 , FVC, FEV 1 /FVC, total lung capacity, diffusing
capacity of the lung … , and prevention of chronic obstructive pulmonary disease: GOLD executive …
capacity of the lung … , and prevention of chronic obstructive pulmonary disease: GOLD executive …
Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2
L Dong, L Zhang, X Li, S Mei, Y Shen, L Fu, S Zhao… - BMC pediatrics, 2023 - Springer
… Over 50 genes have been reported to be associated with PCD, including DNAH5,
DNAH11, DNAI1, DNAI2, DNAL1, TXNDC3, DNAAF1, DNAAF2, etc. [1, 6, 11]. In 2008, two …
DNAH11, DNAI1, DNAI2, DNAL1, TXNDC3, DNAAF1, DNAAF2, etc. [1, 6, 11]. In 2008, two …
[PDF][PDF] New methods for the study of Primary Ciliary Dyskinesia
DJSA Lucas, DDCF Barral, DSS Lopes - 2021 - run.unl.pt
… 80 4.4 A subject with an atypical pathogenic variant in DNAH5 … associated with well-known
human cystic kidney diseases … , DNAH5 and DNAH11, show preserved lung function and no …
human cystic kidney diseases … , DNAH5 and DNAH11, show preserved lung function and no …
Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects
C Liu, R Cao, Y Xu, T Li, F Li, S Chen, R Xu, K Sun - Genome Medicine, 2018 - Springer
… , we first examined the function of the genes associated with the 19 rare … DNAH5, DNAH9,
and DNAH11) can cause primary ciliary dyskinesia (PCD). PCD is a severe inherited disorder …
and DNAH11) can cause primary ciliary dyskinesia (PCD). PCD is a severe inherited disorder …
[图书][B] Molecular Mechanisms of Cilia Related Diseases
J Goncalves, S Carvalhal, AM Tassin, B Carmona - 2024 - books.google.com
… related respiratory symptoms or fertility problems and cannot be diagnosed as typical PCD.
The lack of respiratory … defects and universally suffer from upper and lower airway diseases. …
The lack of respiratory … defects and universally suffer from upper and lower airway diseases. …
[PDF][PDF] Role of cilia and left-right patterning in congenital heart disease
… This includes obstructive airway disease, low nasal NO, and … congenital heart defect
associated with heterotaxy was … and airway clearance defects seen in PCD patients with DNAH5 …
associated with heterotaxy was … and airway clearance defects seen in PCD patients with DNAH5 …
miR449 protects airway regeneration by controlling AURKA/HDAC6-mediated ciliary disassembly
M Wildung, C Herr, D Riedel, C Wiedwald… - International Journal of …, 2022 - mdpi.com
… for airway defense and are impaired in chronic obstructive … dynein axonemal heavy chain 5
(Dnah5) (Figure 4e–g). … indicated by an increase in total lung capacity and reduction in tissue …
(Dnah5) (Figure 4e–g). … indicated by an increase in total lung capacity and reduction in tissue …
Transcript-Level Biomarkers of Early Lung Carcinogenesis in Bronchial Lesions
MA Pyatnitskiy, EV Poverennaya - Cancers, 2024 - mdpi.com
… , such as presence of chronic obstructive pulmonary diseases or reported smoking history
… in multiple cilium-related biological processes and cellular components like DNAH5 (dynein …
… in multiple cilium-related biological processes and cellular components like DNAH5 (dynein …
Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease
J Weidner, L Jarenbäck, K de Jong, JM Vonk… - Respiratory …, 2017 - Springer
… A recent GWAS identified genetic variants associated with total lung capacity in COPD [4].
Among several SNPs that were identified in patients with prominent emphysema, one was in …
Among several SNPs that were identified in patients with prominent emphysema, one was in …