Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
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Joubert Syndrome and related disordersRetinitis pigmentosaIdentification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mappingIncreased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neuronsOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinThe Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactionsNephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegansNovel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartmentCongenital hypoplasia of the cerebellum: developmental causes and behavioral consequencesThe role of primary cilia in neuronal functionCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationIdentifying autism loci and genes by tracing recent shared ancestryAHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCerebellar development and diseaseCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeCellular Mechanisms of Ciliary Length ControlThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationA developmental and genetic classification for malformations of cortical development: update 2012Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeThe nonmotile ciliopathies.Trafficking in and to the primary cilium.Assembling a primary cilium.Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeImpaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisNeuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.Huntingtin-associated protein 1 regulates postnatal neurogenesis and neurotrophin receptor sortingLoss of Ahi1 impairs neurotransmitter release and causes depressive behaviors in miceLoss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiationHuntingtin-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 traffickingConnecting genes to brain in the autism spectrum disordersNeural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disordersCiliopathies
P2860
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P2860
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
description
2004 nî lūn-bûn
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2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in the AHI1 gene, en ...... e with cortical polymicrogyria
@nl
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@ast
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@en
type
label
Mutations in the AHI1 gene, en ...... e with cortical polymicrogyria
@nl
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@ast
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@en
prefLabel
Mutations in the AHI1 gene, en ...... e with cortical polymicrogyria
@nl
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@ast
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@en
P2093
P2860
P50
P3181
P356
P1476
Mutations in the AHI1 gene, en ...... with cortical polymicrogyria.
@en
P2093
Aithala Gururaj
Asma A Al-Tawari
Carrie M Louie
Hulya Kayserili
Jennifer L Silhavy
Lesley C Scott
László Sztriha
Sarah E Marsh
Tracy Dixon-Salazar
P2860
P304
P3181
P356
10.1086/425985
P407
P577
2004-10-04T00:00:00Z