Article

Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect

2025-03-15

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic disorder that affects the motile cilia in various organs, leading to recurrent respiratory infections, subfertility, and laterality abnormalities. Traditional diagnostic methods include high-speed video microscopy, immunofluorescence staining, electron microscopy, and genetic screening. However, how different disease-causing variants in the same PCD gene affect clinica...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2d4d14ea-3c7b-5425-bff4-b27b6483e197
DOI: 10.1101/2025.03.14.643267

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defectDOI 10.1101/2025.03.14.643267Read

Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defectSemantic proximity Read

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.Semantic proximity Read

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.Semantic proximity Read

Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated PatientsSemantic proximity Read

DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Semantic proximity Read

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.Semantic proximity Read

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.Semantic proximity Read

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructureSemantic proximity Read

Genetic Defects in Ciliary Structure and FunctionSemantic proximity Read

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Semantic proximity Read

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report.Semantic proximity Read

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.Semantic proximity Read