Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaCombined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Genetic factors contributing to human primary ciliary dyskinesia and male infertilityDiagnosis and management of primary ciliary dyskinesiaMutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human DiseaseUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Primary ciliary dyskinesia.Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewA Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionNovel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesiaTargeted 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.Cryo-electron tomography of motile cilia and flagellaDNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesAssessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesiaCharacterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotypeCarrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures.Mutation analysis in patients with total sperm immotilityMechanism for generation of left isomerism in Ccdc40 mutant embryos.Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical diseaseMajor regulatory mechanisms involved in sperm motility.Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Expanding horizons: ciliary proteins reach beyond cilia.Gene mutations in primary ciliary dyskinesia related to otitis media.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia.Histologic and Ultrastructural Findings in Dogs With Chronic Respiratory Disease Suspected of Ciliary Dyskinesia.Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.Primary ciliary dyskinesia: mechanisms and management.A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.
P2860
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P2860
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
description
2013 nî lūn-bûn
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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@ast
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en-gb
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@nl
type
label
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@ast
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en-gb
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@nl
prefLabel
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@ast
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en-gb
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@nl
P2093
P2860
P50
P921
P3181
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P1476
Mutations in CCDC39 and CCDC40 ...... n and absent inner dynein arms
@en
P2093
Abhijit Dixit
Alexandros Onoufriadis
Andrew Rutman
Anita Becker-Heck
Christopher O'Callaghan
Claire Hogg
Dinu Antony
Eddie M K Chung
Hannah M Mitchison
P2860
P304
P3181
P356
10.1002/HUMU.22261
P407
P50
P577
2013-02-11T00:00:00Z