Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
about
Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesiaMislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesiaMutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationCharacterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiationA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaGenetic factors contributing to human primary ciliary dyskinesia and male infertilityGenetics and biology of primary ciliary dyskinesiaCCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaCiliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapyUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsWhole-organ isolation approach as a basis for tissue-specific analyses in Schistosoma mansoniPrimary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specificationCRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for SpermiogenesisConditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitisOda16/Wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesisRestoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector.Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.Non-cystic fibrosis bronchiectasis: review and recent advances.Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).An incredible decade for the primary cilium: a look at a once-forgotten organelle.Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Mechanical control of tissue morphogenesis.Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.Genetic regulation of cilia assembly and the relationship to human disease.Motor or sensor: a new aspect of primary cilia function.Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patientsPrimary ciliary dyskinesia: clinical presentation, diagnosis and genetics.Genetics of human heterotaxias.Primary ciliary dyskinesia: improving the diagnostic approach.EGF shifts human airway basal cell fate toward a smoking-associated airway epithelial phenotypePrimary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
P2860
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P2860
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@ast
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en-gb
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@nl
type
label
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@ast
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en-gb
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@nl
prefLabel
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@ast
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en-gb
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@nl
P2093
P2860
P921
P356
P1476
Axonemal dynein intermediate-c ...... skinesia (Kartagener syndrome)
@en
P2093
Bouvagnet P
Guichard C
Harricane MC
Lafitte JJ
P2860
P304
P356
10.1086/319511
P407
P577
2001-02-23T00:00:00Z