Author: Monika Abedin Sigg; Tabea Menchen; Jeffery Johnson; Chanjae Lee; Semil P. Choksi; Galo Garcia; Henriette Busengdal; Gerard Dougherty; Petra Pennekamp; Claudius Werner; Fabian Rentzsch; Nevan Krogan; John B. Wallingford; Heymut Omran; Jeremy F. Reiter
Title: Evolutionary proteomics uncovers ciliary signaling components Document date: 2017_6_22
ID: 9y8r277c_47
Snippet: To assess the effect of the homozygous mutation on ENKUR, we examined the motile 465 cilia of nasal epithelial cells isolated from the respiratory tracts of both affected individuals and 466 an unaffected control. We found that human ENKUR localizes to nasal epithelial cilia ( (Table S8 ). Whereas individuals with disrupted ciliary motility produce 487 reduced levels of nasal nitric oxide (Lundberg et al., 1994) , the nasal nitric oxide productio.....
Document: To assess the effect of the homozygous mutation on ENKUR, we examined the motile 465 cilia of nasal epithelial cells isolated from the respiratory tracts of both affected individuals and 466 an unaffected control. We found that human ENKUR localizes to nasal epithelial cilia ( (Table S8 ). Whereas individuals with disrupted ciliary motility produce 487 reduced levels of nasal nitric oxide (Lundberg et al., 1994) , the nasal nitric oxide production 488 rates of the two individuals with situs inversus were 155 ml/min and 234 ml/min, exceeding the 489 77 ml/min production rate below which is consistent with PCD (Table S8 ). According to these 490 measures, the respiratory ciliary function of both individuals with homozygous ENKUR 491 mutations was normal. 492
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