Clinical and genetic spectrum of children with primary ciliary dyskinesia in China
Y Guan, H Yang, X Yao, H Xu, H Liu, X Tang, C Hao… - Chest, 2021 - Elsevier
… The PCD-associated genetic spectrum varies among … or CCDC40 exhibit worse lung
function and rapid disease progression, … The distribution of DNAH11 and DNAH5 in our study is …
function and rapid disease progression, … The distribution of DNAH11 and DNAH5 in our study is …
Motile ciliary disorders in chronic airway inflammatory diseases: critical target for interventions
W Guan, Y Peng, X Zi, KS Tan, T He, N Zhong… - Current allergy and …, 2018 - Springer
… polyps, asthma, chronic obstructive pulmonary disease (COPD), … DNAH5 is located along
the length of respiratory cilia, whereas … reportedly correlated with poor lung function in CF [64]. …
the length of respiratory cilia, whereas … reportedly correlated with poor lung function in CF [64]. …
[HTML][HTML] Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis
WJ Guan, JC Li, F Liu, J Zhou, YP Liu… - … of Thoracic Disease, 2018 - ncbi.nlm.nih.gov
… When analyzing 15 PCD-associated genes, we identified 36 DNAH11 variants, 16 DNAH5
… Clinical characteristics of patients with chronic obstructive pulmonary disease with comorbid …
… Clinical characteristics of patients with chronic obstructive pulmonary disease with comorbid …
Ciliary Function, Antigen Stasis and Asthma
N Marozkina - 2024 - preprints.org
… underlying the function of cilia, can be associated with poor lung function, … obstructive lung
disease in adults [72]. One study has shown that expression of PCD – related genes, DNAH5, …
disease in adults [72]. One study has shown that expression of PCD – related genes, DNAH5, …
Functional evaluation and genetic landscape of children and young adults referred for assessment of bronchiectasis
JFT Chau, M Lee, MMC Chui, MHC Yu, JLF Fung… - Frontiers in …, 2022 - frontiersin.org
… 2 of the study (DNAI1, DNAH11, and DNAH5 x2). These four positive genetic diagnoses could
… with bronchiectasis, suspected small airway disease, bronchiolitis, complicated with cystic …
… with bronchiectasis, suspected small airway disease, bronchiolitis, complicated with cystic …
Application of Genomic and Bioinformatic Tools to Search for Causal Variants in Laterality Defects of Major Organs
NAA Yousef - 2023 - platform.almanhal.com
… Through whole-exome analysis, we identified variants with … in DNAH5 and (c) three
homozygotes in DNAH1, DNAH5, and … DNAH5 function and related diseases are mentioned in …
homozygotes in DNAH1, DNAH5, and … DNAH5 function and related diseases are mentioned in …
Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening
R Zheng, W Yang, Y Wen, L Xie, F Shi, D Lu… - … Death & Disease, 2022 - nature.com
… : recurrent respiratory tract infections, low lung function, and … Defective DNAH5 causes
complete or nearly complete cilia … airway, and their function is closely related to ciliary function. …
complete or nearly complete cilia … airway, and their function is closely related to ciliary function. …
[HTML][HTML] Aberrant epithelial remodeling with impairment of cilia architecture in non-cystic fibrosis bronchiectasis
… Hyperplastic epithelium is associated with overexpression of … such as asthma and chronic
obstructive pulmonary disease (… of DNAH5 positive staining was defined as DNAH5 abnormal …
obstructive pulmonary disease (… of DNAH5 positive staining was defined as DNAH5 abnormal …
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
X Zhao, C Bian, K Liu, W Xu, Y Liu, X Tian, J Bai… - … of Rare Diseases, 2021 - Springer
… for total lung capacity% (TLC%) and diffusing capacity of the … origin with PCD were associated
with DNAH5 and in a study by … 8383C > T stop-gain mutation in DNAH5 was a hotspot …
with DNAH5 and in a study by … 8383C > T stop-gain mutation in DNAH5 was a hotspot …
Motile cilia and airway disease
M Legendre, LE Zaragosi, HM Mitchison - Seminars in cell & …, 2021 - Elsevier
… as chronic obstructive pulmonary disease (COPD), non-cystic … within this disease spectrum,
NEK10 mutation is associated with … There is a progressive loss of lung function through the …
NEK10 mutation is associated with … There is a progressive loss of lung function through the …