Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
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Ancient and recent positive selection transformed opioid cis-regulation in humansJoubert Syndrome and related disordersRetinitis pigmentosaAdvances in autism genetics: on the threshold of a new neurobiologyMutation of POC1B in a severe syndromic retinal ciliopathyMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeThe ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeOFD1 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 interactionsMutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.NephronophthisisMutations 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 elegansCongenital hypoplasia of the cerebellum: developmental causes and behavioral consequencesCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationThe CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationAHI1 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 syndromeThe role of primary cilia in the development and disease of the retinaGenetic changes shaping the human brainInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeNMR studies of HAR1 RNA secondary structures reveal conformational dynamics in the human RNAThe 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 miceThe characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndromeLoss 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, Ahi1
P2860
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P2860
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին 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
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@ast
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@en
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@nl
type
label
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@ast
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@en
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@nl
prefLabel
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@ast
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@en
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@nl
P2093
P2860
P356
P1433
P1476
Abnormal cerebellar developmen ...... ns in AHI1 in Joubert syndrome
@en
P2093
Adria Bodell
Ahmed Al-Rumayyan
Christopher A Walsh
Doha Al-Nouri
Generoso Gascon
Laura D Tully
Maryellen Ruvolo
Meral Topcu
R Sean Hill
Randall V Collura
P2860
P2888
P304
P356
10.1038/NG1419
P407
P577
2004-09-01T00:00:00Z