The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
about
Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse.Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.Spatiotemporal differences in the c-fos pathway between C57BL/6J and DBA/2J mice following flurothyl-induced seizures: A dissociation of hippocampal Fos from seizure activity.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.Dynamic Energy Dependency of Chlamydia trachomatis on Host Cell Metabolism during Different Stages of Intracellular Growth: Possible role of Sodium -based energetics in Chlamydial ATP generation.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Response to Heller and Bolz.The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.Joubert Syndrome
P2860
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P2860
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The Joubert syndrome-associate ...... d protein-protein interactions
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The Joubert syndrome-associate ...... d protein-protein interactions
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The Joubert syndrome-associate ...... d protein-protein interactions
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The Joubert syndrome-associate ...... d protein-protein interactions
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type
label
The Joubert syndrome-associate ...... d protein-protein interactions
@ast
The Joubert syndrome-associate ...... d protein-protein interactions
@en
The Joubert syndrome-associate ...... d protein-protein interactions
@en-gb
The Joubert syndrome-associate ...... d protein-protein interactions
@nl
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The Joubert syndrome-associate ...... d protein-protein interactions
@ast
The Joubert syndrome-associate ...... d protein-protein interactions
@en
The Joubert syndrome-associate ...... d protein-protein interactions
@en-gb
The Joubert syndrome-associate ...... d protein-protein interactions
@nl
P2093
P2860
P921
P356
P1476
The Joubert syndrome-associate ...... d protein-protein interactions
@en
P2093
Bingxing Shi
Dan Doherty
Erin Y Harmon
Ian A Glass
Ian G Phelps
Karina Tuz
Michelle R Lennartz
Oscar Juárez
Russell J Ferland
Yi-Chun Hsiao
P2860
P304
P356
10.1074/JBC.M112.420786
P407
P577
2013-05-10T00:00:00Z