Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease - Wikidata - awgldk - TriplyDB

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

http://www.wikidata.org/entity/Q37304381

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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Clinical spectrum of primary ciliary dyskinesia in childhood Diagnosis of primary ciliary dyskinesia Diagnosis and management of primary ciliary dyskinesia CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice Diagnosing primary ciliary dyskinesia: an international patient perspective PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.Accuracy of diagnostic testing in primary ciliary dyskinesia Respiratory epithelial cells orchestrate pulmonary innate immunity.Airway Epithelial Cell Cilia and Obstructive Lung Disease Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review 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.Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector.A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Cooperative binding of the outer arm-docking complex underlies the regular arrangement of outer arm dynein in the axoneme.The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research Strain-dependent brain defects in mouse models of primary ciliary dyskinesia with mutations in Pcdp1 and Spef2 Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome.Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders Lower airway colonization and inflammatory response in COPD: a focus on Haemophilus influenzae Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.An innovative lab-based training program to help patient groups understand their disease and the research process.Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype Dynamics of lung defense in pneumonia: resistance, resilience, and remodeling.Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells Cilia and Diseases Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.Kartagener's syndrome: review of a case series

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Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

http://www.wikidata.org/entity/Q37304381

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article científic

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article scientifique

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bilimsel makale

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scientific article published on October 2013

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vetenskaplig artikel

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vědecký článek

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Primary ciliary dyskinesia. Re ...... terization of clinical disease

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Primary ciliary dyskinesia. Re ...... erization of clinical disease.

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Primary ciliary dyskinesia. Re ...... terization of clinical disease

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Primary ciliary dyskinesia. Re ...... erization of clinical disease.

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Primary ciliary dyskinesia. Re ...... terization of clinical disease

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Primary ciliary dyskinesia. Re ...... erization of clinical disease.

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RCCM.201301-0059CI

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American Journal of Respiratory and Critical Care Medicine

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Primary ciliary dyskinesia. Re ...... terization of clinical disease

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Leigh Anne Daniels

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Maimoona A Zariwala

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Margaret W Leigh

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Michael R Knowles

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Stephanie D Davis

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P2860

Prolonged antibiotics for purulent bronchiectasis in children and adults

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

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

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10.1164/RCCM.201301-0059CI

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