Axoneme
/ chemistry
Cell Cycle Proteins
/ deficiency
Cilia
/ chemistry
Ciliary Motility Disorders
/ diagnosis
Codon, Nonsense
Cohort Studies
DNA Mutational Analysis
Epithelial Cells
/ cytology
Female
Genetic Heterogeneity
Homozygote
Humans
Loss of Function Mutation
Male
Microfilament Proteins
/ genetics
Microscopy, Electron, Transmission
Microscopy, Fluorescence
Mucociliary Clearance
/ genetics
Mutation
Mutation, Missense
Pedigree
Primary Cell Culture
Situs Inversus
/ diagnosis
HYDIN2
cilia
immunofluorescence microscopy analysis
situs solitus
test sensitivity and specificity
Journal
American journal of respiratory cell and molecular biology
ISSN: 1535-4989
Titre abrégé: Am J Respir Cell Mol Biol
Pays: United States
ID NLM: 8917225
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
pubmed:
24
9
2019
medline:
28
7
2020
entrez:
24
9
2019
Statut:
ppublish
Résumé
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide measurement, analysis of ciliary beating, transmission electron microscopy (TEM), and/or genetic testing. In most genetic PCD variants, laterality defects can occur. However, it is difficult to establish a diagnosis in individuals with PCD and central pair (CP) defects, and alternative strategies are required because of very subtle ciliary beating abnormalities, a normal ciliary ultrastructure, and normal situs composition. Mutations in
Identifiants
pubmed: 31545650
doi: 10.1165/rcmb.2019-0086OC
doi:
Substances chimiques
Cell Cycle Proteins
0
Codon, Nonsense
0
HYDIN protein, human
0
Microfilament Proteins
0
SPEF2 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
382-396Commentaires et corrections
Type : CommentIn