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Article

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

Proceedings of the National Academy of Sciences of the United States of America - 2 Oct 2007

McEwen Dyke P, Koenekoop Robert K, Khanna Hemant, Jenkins Paul M, Lopez Irma, Swaroop Anand, Martens Jeffrey R

Abstract excerpt

Cilia regulate diverse functions such as motility, fluid balance, and sensory perception. The cilia of olfactory sensory neurons (OSNs) compartmentalize the signaling proteins necessary for odor detection; however, little is known regarding the mechanisms of protein sorting/entry into olfactory c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17898177
DOI: 10.1073/pnas.0704140104
PMCID: PMC2000398

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17898177-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.PMID 17898177Read ↗

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Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Semantic proximity Read ↗

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