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Article

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

American journal of human genetics - 1 Oct 2015

Olbrich Heike, Cremers Carolin, Loges Niki T, Werner Claudius, Nielsen Kim G, Marthin June K, Philipsen Maria, Wallmeier Julia, Pennekamp Petra, Menchen Tabea, Edelbusch Christine, Dougherty Gerard W, Schwartz Oliver, Thiele Holger, Altmüller Janine, Rommelmann Frank, Omran Heymut

Abstract excerpt

Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurrent respiratory infections. Numerous genetic defects, most of which can be detected by transmission electron...

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Identifiers

PMID: 26387594
DOI: 10.1016/j.ajhg.2015.08.012
PMCID: PMC4596893

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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