The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
about
RTTN mutations link primary cilia function to organization of the human cerebral cortexIntrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeThe kidney and planar cell polarity.Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesScrutinizing ciliopathies by unraveling ciliary interaction networksCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesMouse models of ciliopathies: the state of the art.Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortexDisordered proteinaceous machinesTectonic gene mutations in patients with Joubert syndrome.Update on neuroimaging phenotypes of mid-hindbrain malformations.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyMutations in C5ORF42 cause Joubert syndrome in the French Canadian populationDelineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Mutations in CSPP1 lead to classical Joubert syndrome.Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.The ciliopathy gene Rpgrip1l is essential for hair follicle development.Joubert syndrome: report of 11 casesBBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationA mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.Joubert syndrome: Clinical and radiological characteristics of nine patientsNosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report.Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish.Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.RFX7 is required for the formation of cilia in the neural tubeExpanding horizons: ciliary proteins reach beyond cilia.What we can learn from a tadpole about ciliopathies and airway diseases: Using systems biology in Xenopus to study cilia and mucociliary epithelia.Mechanisms for nonmitotic activation of Aurora-A at cilia.Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.Molecular genetic analysis of 30 families with Joubert syndrome.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Genetics of body fat mass and related traits in a pig population selected for leanness
P2860
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P2860
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@ast
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@en
type
label
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@ast
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@en
prefLabel
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@ast
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@en
P2860
P1476
The ciliopathies in neuronal d ...... rt syndrome-related disorders.
@en
P2093
Joseph G Gleeson
Shifteh Sattar
P2860
P304
P356
10.1111/J.1469-8749.2011.04021.X
P577
2011-06-17T00:00:00Z