Ciliopathies: the Central Role of Cilia in a Spectrum of Pediatric Disorders

Overview

Journal J Pediatr

Specialty Pediatrics

Date 2011 Dec 20

PMID 22177992

Citations 42

Authors

Thomas W Ferkol

Margaret W Leigh

Affiliations

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Citing Articles

A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development.

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TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers.

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volumetric depth-resolved imaging of cilia metachronal waves using dynamic optical coherence tomography.

Xia T, Umezu K, Scully D, Wang S, Larina I Optica. 2024; 10(11):1439-1451.

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A Chemically Inducible Organelle Rerouting Assay to Probe Primary Cilium Assembly, Maintenance, and Disassembly in Cultured Cells.

Turan F, Ercan M, Firat-Karalar E Methods Mol Biol. 2023; 2725:55-78.

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Novel Pathogenic Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis.

Lin H, Gupta A, Bove K, Szabo S, Xu F, Krentz A J Pediatr Genet. 2023; 12(3):246-253.

PMID: 37575649 PMC: 10421694. DOI: 10.1055/s-0041-1733940.

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