Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24294945

about

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation Expanding the genetic toolkit in Xenopus: Approaches and opportunities for human disease modeling Genetics and biology of primary ciliary dyskinesia Accuracy of diagnostic testing in primary ciliary dyskinesia Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review GemC1 controls multiciliogenesis in the airway epithelium Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Multicilin drives centriole biogenesis via E2f proteins Myb permits multilineage airway epithelial cell differentiation.Recent advances in primary ciliary dyskinesia genetics.Airway basal cells. The "smoking gun" of chronic obstructive pulmonary disease Diagnosis and management of primary ciliary dyskinesia.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells Cilia dysfunction in lung disease.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.miR-34/449 control apical actin network formation during multiciliogenesis through small GTPase pathways.Primary ciliary dyskinesia and associated sensory ciliopathies MicroRNAs as key regulators of GTPase-mediated apical actin reorganization in multiciliated epithelia.GEMC1 is a critical regulator of multiciliated cell differentiation.Multiciliated cells Genetic basis of human left-right asymmetry disorders.A systematic analysis of orphan cyclins reveals CNTD2 as a new oncogenic driver in lung cancer The Janus soul of centrosomes: a paradoxical role in disease?European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Motile and non-motile cilia in human pathology: from function to phenotypes.How a radial glial cell decides to become a multiciliated ependymal cell.Genes and molecular pathways underpinning ciliopathies.The aryl hydrocarbon receptor controls cyclin O to promote epithelial multiciliogenesis.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.Centriole amplification by mother and daughter centrioles differs in multiciliated cells.Primary ciliary dyskinesia: mechanisms and management.Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant.Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia.Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.Cell cycle proteins moonlight in multiciliogenesis.

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P2860

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

http://www.wikidata.org/entity/Q24294945

description

2014 nî lūn-bûn

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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2014 թվականի հունիսին հրատարակված գիտական հոդված

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2014年の論文

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Mutations in CCNO result in co ...... ation of multiple motile cilia

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Mutations in CCNO result in co ...... ation of multiple motile cilia

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Nature Genetics

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Basel H Alsabah

http://www.w3.org/2001/XMLSchema#string

Chris Kintner

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Chun-Ting Chen

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Cordula Koerner-Rettberg

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Dalal A Al-Mutairi

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Elisabeth Horak

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Gabriele Köhler

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Gerard W Dougherty

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Hanan E Shamseldin

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Julia Wallmeier

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646-51

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scholarly article

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1870117

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10.1038/NG.2961

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6

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46

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Sabina Schmitt-Grohé

Claudius Werner

Fowzan S Alkuraya

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2014-06-01T00:00:00Z

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261766092

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1003940356

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24747639

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multi-ciliated epithelial cell differentiation