Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
about
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition ZoneThe axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertilityCFAP157 is a murine downstream effector of FOXJ1 that is specifically required for flagellum morphogenesis and sperm motility.The role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingMechanism for generation of left isomerism in Ccdc40 mutant embryos.Cilia in vertebrate left-right patterning.Left-Right Patterning: Breaking Symmetry to Asymmetric Morphogenesis.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms.Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.Prenatal diagnosis of Joubert syndrome: A case report and literature review.Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.A lumenal interrupted helix in human sperm tail microtubules.Primary Ciliary Dyskinesia.Sensing the cilium, digital capture of ciliary data for comparative genomics investigations.The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice
P2860
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P2860
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
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2015年論文
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2015年论文
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name
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@ast
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@en
type
label
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@ast
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@en
prefLabel
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@ast
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@en
P2093
P2860
P356
P1433
P1476
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
@en
P2093
Erica E Davis
Kavita Praveen
Nicholas Katsanis
P2860
P356
10.12703/P7-36
P577
2015-03-10T00:00:00Z