Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
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The dynamic cilium in human diseasesHomozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate geneAxonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)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 mutationA 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.CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHEATR2 plays a conserved role in assembly of the ciliary motile apparatusAxonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesiaMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaMNS1 is essential for spermiogenesis and motile ciliary functions in miceARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryDNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armDYX1C1 is required for axonemal dynein assembly and ciliary motilityMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsDeletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsAn intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pigFounder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin familiesThe 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motilityGenetic factors contributing to human primary ciliary dyskinesia and male infertilityCCDC65 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 defectsLoss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexInactivation of Chibby affects function of motile airway ciliaMutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patientsThe 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 SpermiogenesisChlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella
P2860
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P2860
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Loss-of-function mutations in ...... in primary ciliary dyskinesia
@nl
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@ast
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en-gb
type
label
Loss-of-function mutations in ...... in primary ciliary dyskinesia
@nl
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@ast
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en-gb
prefLabel
Loss-of-function mutations in ...... in primary ciliary dyskinesia
@nl
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@ast
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en
Loss-of-function mutations in ...... in primary ciliary dyskinesia.
@en-gb
P2093
P2860
P921
P356
P1476
Loss-of-function mutations in ...... in primary ciliary dyskinesia
@en
P2093
Bridoux AM
Chapelin C
Escudier E
Goossens M
P2860
P304
P356
10.1086/302683
P407
P577
1999-12-01T00:00:00Z