Genetics and biology of primary ciliary dyskinesia

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Primary Ciliary Dyskinesia

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The Immotile-Cilia Syndrome

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

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Foxj1 transcription factors are master regulators of the motile ciliogenic program

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Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

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Ciliogenesis and Left–Right Axis Defects in Forkhead Factor HFH-4–Null Mice

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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

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The RFX-Type Transcription Factor DAF-19 Regulates Sensory Neuron Cilium Formation in C. elegans

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

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The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos

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Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

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Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP

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DYX1C1 is required for axonemal dynein assembly and ciliary motility

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Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

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Clinical Features of Childhood Primary Ciliary Dyskinesia By Genotype and Ultrastructural Phenotype

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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

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Standardizing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia

Leigh, M. W., Hazucha, M. J., Chawla, K. K., Baker, B. R., Shapiro, A. J., Brown, D. E., LaVange, L. M., Horton, B. J., Qaqish, B. F., Carson, J. L., et al. (2013) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201305-110oc · Cited by 274 · see citing works

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

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DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

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Primary cilia in neurodevelopmental disorders

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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

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The Evolution of Eukaryotic Cilia and Flagella as Motile and Sensory Organelles

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Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation

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Radial spoke proteins ofChlamydomonasflagella

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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

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Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

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Role of f-box factor foxj1 in differentiation of ciliated airway epithelial cells

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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

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Mutations of DNAI1 in Primary Ciliary Dyskinesia

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A molecular ruler determines the repeat length in eukaryotic cilia and flagella

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Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

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Multicilin drives centriole biogenesis via E2f proteinsPreprint

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The role of primary cilia in the development and disease of the retina

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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

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Foxj1 regulates basal body anchoring to the cytoskeleton of ciliated pulmonary epithelial cells

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CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

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RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

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Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

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Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene

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Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

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RFX2 is broadly required for ciliogenesis during vertebrate development

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Elucidation of Basal Body and Centriole Functions in Chlamydomonas reinhardtii

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Emerging role of primary cilia as mechanosensors in osteocytes

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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

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Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects.

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The Emerging Genetics of Primary Ciliary Dyskinesia

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RFX3 Modulation of FOXJ1 regulation of cilia genes in the human airway epithelium

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

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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

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RPGR mutations might cause reduced orientation of respiratory cilia

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NewDNAH11mutations in primary ciliary dyskinesia with normal axonemal ultrastructure: Fig. 1—

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Three-dimensional structures of the flagellar dynein–microtubule complex by cryoelectron microscopy

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Ciliary motility: The components and cytoplasmic preassembly mechanisms of the axonemal dyneins

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Equations of Interdoublet Separation during Flagella Motion Reveal Mechanisms of Wave Propagation and Instability

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Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1

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Myb Permits Multilineage Airway Epithelial Cell Differentiation

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Diagnostic accuracy of nitric oxide measurements to detect primary ciliary dyskinesia

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Zur Pathogenese der Bronchiektasien

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Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

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