ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

doi:10.1016/j.ajhg.2013.06.009

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Article

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

American journal of human genetics - 8 Aug 2013

Hjeij Rim, Lindstrand Anna, Francis Richard, Zariwala Maimoona A, Liu Xiaoqin, Li You, Damerla Rama, Dougherty Gerard W, Abouhamed Marouan, Olbrich Heike, Loges Niki T, Pennekamp Petra, Davis Erica E, Carvalho Claudia M B, Pehlivan Davut, Werner Claudius, Raidt Johanna, Köhler Gabriele, Häffner Karsten, Reyes-Mugica Miguel, Lupski James R, Leigh Margaret W, Rosenfeld Margaret, Morgan Lucy C, Knowles Michael R, Lo Cecilia W, Katsanis Nicholas, Omran Heymut

Abstract excerpt

The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. In humans, defects in structural components, docking complexes, or cytoplasmic assembly factors can cause primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease and...

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PMID: 23849778
DOI: 10.1016/j.ajhg.2013.06.009
PMCID: PMC3738828

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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.PMID 23849778Read ↗

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