Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureDNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armDYX1C1 is required for axonemal dynein assembly and ciliary motilityZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaDeletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsLoss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaHuman male infertility caused by mutations in the CATSPER1 channel proteinDiagnosis and management of primary ciliary dyskinesiaThe challenges of diagnosing primary ciliary dyskinesiaCiliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapyCulture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aidUnexpected 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 ComplexTubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetryMutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsHuman airway ciliary dynamicsDNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesThe determination factors of left-right asymmetry disorders- a short review.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesKidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathwayGenetic male infertility and mutation of CATSPER ion channels.Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Diagnosis and management of primary ciliary dyskinesia.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.A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.Mutation analysis in patients with total sperm immotilityClinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia.Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysisWhole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.
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P2860
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@ast
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en-gb
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@nl
type
label
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@ast
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en-gb
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@nl
prefLabel
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@ast
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en-gb
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@nl
P2093
P50
P921
P356
P1433
P1476
Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations
@en
P2093
Bodo Niggemann
Colette Rossier
Daniel Birker
Georg C Schwabe
Gerhard Gaedicke
Jean-Louis Blouin
Katrin Hoffmann
Lucia Bartoloni
Manfred Fliegauf
Margherita M de Santi
P2860
P304
P356
10.1002/HUMU.20656
P407
P577
2008-02-01T00:00:00Z