Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. - Wikidata - wikimedia - TriplyDB

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

http://www.wikidata.org/entity/Q37217054

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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation HEATR2 plays a conserved role in assembly of the ciliary motile apparatus A prefoldin-associated WD-repeat protein (WDR92) is required for the correct architectural assembly of motile cilia.Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease Intraciliary calcium oscillations initiate vertebrate left-right asymmetry Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Novel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.DRC3 connects the N-DRC to dynein g to regulate flagellar waveform.The nexin link and B-tubule glutamylation maintain the alignment of outer doublets in the ciliary axoneme.X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Zebrafish models in translational research: tipping the scales toward advancements in human health.Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly.Architecture of the human interactome defines protein communities and disease networks.Recent advances in primary ciliary dyskinesia genetics.Detailed structural and biochemical characterization of the nexin-dynein regulatory complex Diagnosis and management of primary ciliary dyskinesia.Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.In situ localization of N and C termini of subunits of the flagellar nexin-dynein regulatory complex (N-DRC) using SNAP tag and cryo-electron tomography.Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.The oligomeric outer dynein arm assembly factor CCDC103 is tightly integrated within the ciliary axoneme and exhibits periodic binding to microtubules Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Mechanisms of otoconia and otolith development The ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking.RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.c21orf59/kurly Controls Both Cilia Motility and Polarization Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Genetic basis of human left-right asymmetry disorders.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The evolving spectrum of ciliopathies and respiratory disease.LITTLE FISH, BIG DATA: ZEBRAFISH AS A MODEL FOR CARDIOVASCULAR AND METABOLIC DISEASE.Axonemal Dynein Arms.

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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

http://www.wikidata.org/entity/Q37217054

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on October 2013

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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J.AJHG.2013.08.015

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American Journal of Human Genetics

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Zebrafish Ciliopathy Screen Pl ...... ng Primary Ciliary Dyskinesia.

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Carlos E Milla

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Daw-Yang Hwang

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Douglas Tritschler

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Friedhelm Hildebrandt

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Iain A Drummond

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Jan Halbritter

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Jeffry J Atkinson

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Jennifer R Panizzi

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Jessica E Pittman

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Johnny L Carson

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P2860

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

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

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity

Proteomic characterization of the human centrosome by protein correlation profiling

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

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

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

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

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

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672-686

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scholarly article

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10.1016/J.AJHG.2013.08.015

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4

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Christina Austin-Tse

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cilium morphogenesis

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