Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

scientific article

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1086/319511
P932PMC publication ID1275621
P698PubMed publication ID11231901
P5875ResearchGate publication ID25092592

P2093author name stringGodard P
Lafitte JJ
Harricane MC
Guichard C
Bouvagnet P
Lalau G
Zaegel M
Tack V
P2860cites workRandomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor proteinQ22008584
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIBQ22008707
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.Q22008848
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.Q22010856
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsQ24290483
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein geneQ24308877
Characterization of a novel human dynein-related gene that is specifically expressed in testisQ24312730
Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignmentQ24322570
X-linked situs abnormalities result from mutations in ZIC3Q24323307
Multiple mouse chromosomal loci for dynein-based motilityQ24329086
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouseQ28504917
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetryQ28506579
Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetriesQ28507104
Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null miceQ28511679
Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysisQ28512332
Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum miceQ28590964
Asymmetry of cilia and of mice and men.Q33724755
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).Q33923991
Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genesQ33933177
Flagella in prokaryotes and lower eukaryotesQ35568759
Axonemal dyneinsQ35870301
Molecular analysis of the microtubule motor dyneinQ36552380
Mucociliary transport and ultrastructural abnormalities in Polynesian bronchiectasisQ36660465
Axonemal dyneins: assembly, organization, and regulationQ41099644
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneityQ45050475
Dynein arms are oscillating force generatorsQ47924190
Cloning of inv, a gene that controls left/right asymmetry and kidney development.Q48021550
Abnormal nodal flow precedes situs inversus in iv and inv miceQ51049412
Zur Pathogenese der BronchiektasienQ56386693
Spermatogenesis revisited. IV. Abnormal spermiogenesis in mice homozygous for another male-sterility-inducing mutation, hpy (hydrocephalic-polydactyl)Q67585119
Ciliary structure in health and diseaseQ73201056
Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in cultureQ73201065
Success rates of respiratory epithelial cell culture techniques with ciliogenesis for diagnosing primary ciliary dyskinesiaQ73201067
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesiaQ77958578
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectdyskinesiaQ629444
situs inversusQ1456383
primary ciliary dyskinesiaQ1690779
Kartagener syndromeQ18928105
outer dynein arm assemblyQ21102156
Dynein axonemal intermediate chain 1Q21110042
P304page(s)1030-1035
P577publication date2001-02-23
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAxonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
P478volume68

Reverse relations

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