Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Keyphrases

• Ciliary Beating 100%
• Motile Ciliopathy 100%
• Biallelic 100%
• Laterality Defects 100%
• Primary Ciliary Dyskinesia 66%
• Motile Cilia 66%
• Cilia Dysfunction 66%
• Left-right Patterning 66%
• Gene Expression 33%
• Fluid Flow 33%
• Loss Function 33%
• Biochemical Studies 33%
• Protein Stability 33%
• Pattern Defect 33%
• Zebrafish 33%
• Clinical Genomics 33%
• Clinical Spectrum 33%
• Cilia 33%
• Hydrocephalus 33%
• Mucociliary Clearance 33%
• Genetic Diagnosis 33%
• Infertility 33%
• Functional Studies 33%
• Respiratory Infection 33%
• Disease Mechanisms 33%
• Assembly Error 33%
• Ciliated Cells 33%
• Genomic Studies 33%
• Reduced Protein 33%
• Outer Dynein Arm 33%
• Respiratory Cilia 33%
• Early Mouse Embryo 33%
• Particle Tracking Velocimetry 33%
• Distal Type 33%
• Cardiac Looping 33%
• Missense Variant 33%
• In Vitro Modeling 33%
• Cilia Motility 33%
• Dynein Arm Assembly 33%

Biochemistry, Genetics and Molecular Biology

• Cilium 100%
• Hemispheric Dominance 100%
• Primary Ciliary Dyskinesia 40%
• Gene Expression 20%
• Genetics 20%
• Wild Type 20%
• Dynein 20%
• Protein Stability 20%
• Zebra Fish 20%
• Clinical Genomics 20%
• Mucociliary Clearance 20%
• Missense 20%
• Fluid Flow 20%

Pharmacology, Toxicology and Pharmaceutical Science

• Ciliopathy 100%
• Ciliary Dyskinesia 66%
• Diseases 66%
• Dynein Adenosine Triphosphatase 33%
• Hydrocephalus 33%
• Zebra Fish 33%