about
Joubert Syndrome and related disordersMapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinNephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Liver and kidney disease in ciliopathiesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Spectrum of clinical diseases caused by disorders of primary ciliaInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentThe characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndromeHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingExpression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment.PCAN: phenotype consensus analysis to support disease-gene association.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Consensus Paper: Cerebellar Development.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.Association of common variants in the Joubert syndrome gene (AHI1) with autism.Joubert syndrome in a neonate: case report with literature reviewMKS1 regulates ciliary INPP5E levels in Joubert syndrome.Eye movement abnormalities in Joubert syndrome.Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigationThe Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Cilia in cell signaling and human disorders.Joubert syndrome presenting with motor delay and oculomotor apraxia.A review of the evidence for the canonical Wnt pathway in autism spectrum disorders.Diffusion tensor imaging and fiber tractography in brain malformations.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Clinical utility gene card for: Joubert syndromeJoubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review.Ciliopathies: Genetics in Pediatric Medicine.Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Joubert syndrome (and related disorders) (OMIM 213300).
@en
Joubert syndrome
@nl
type
label
Joubert syndrome (and related disorders) (OMIM 213300).
@en
Joubert syndrome
@nl
prefLabel
Joubert syndrome (and related disorders) (OMIM 213300).
@en
Joubert syndrome
@nl
P2093
P356
P1476
Joubert syndrome (and related disorders) (OMIM 213300).
@en
P2093
Dan Doherty
Ian A Glass
Melissa A Parisi
Phillip F Chance
P2888
P304
P356
10.1038/SJ.EJHG.5201648
P577
2007-03-21T00:00:00Z