Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from inhaled pathogens and consequent respiratory infections. Dynein motor proteins provide mechanical force for cilia beating. Dynein mutations are...

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Veröffentlicht in:	American journal of human genetics 2018-12, Vol.103 (6), p.984-994
Hauptverfasser:	Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Sequence Axonemal Dyneins - genetics Child Child, Preschool Cilia - genetics Ciliary Motility Disorders - genetics DNAH9 dynein Dyneins - genetics Genetics High-Throughput Nucleotide Sequencing - methods Human genetics Human health and pathology Humans Life Sciences Male motile cilia mutation Mutation - genetics primary ciliary dyskinesia Pulmonology and respiratory tract Respiratory System - pathology Sequence Alignment situs inversus Situs Inversus - genetics tomography
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