Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
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NephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeThe nonmotile ciliopathies.Impaired 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 developmentRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1Clinical and molecular features of Joubert syndrome and related disorders.Disease gene characterization through large-scale co-expression analysisJoubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesCby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.Nephronophthisis.Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.The molecular basis of retinal dystrophies in pakistan.Expression changes of hypothalamic Ahi1 in mice brain: implication in sensing insulin signaling.Nephronophthisis: a genetically diverse ciliopathyCilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.Prospective Evaluation of Kidney Disease in Joubert Syndrome.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice.Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
P2860
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P2860
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Identification of the first AH ...... is-associated Joubert syndrome
@ast
Identification of the first AH ...... is-associated Joubert syndrome
@en
Identification of the first AH ...... is-associated Joubert syndrome
@nl
type
label
Identification of the first AH ...... is-associated Joubert syndrome
@ast
Identification of the first AH ...... is-associated Joubert syndrome
@en
Identification of the first AH ...... is-associated Joubert syndrome
@nl
prefLabel
Identification of the first AH ...... is-associated Joubert syndrome
@ast
Identification of the first AH ...... is-associated Joubert syndrome
@en
Identification of the first AH ...... is-associated Joubert syndrome
@nl
P2093
P2860
P50
P1433
P1476
Identification of the first AH ...... is-associated Joubert syndrome
@en
P2093
Hans-Christian Hennies
Michael Eccles
Rob Rodrigues Pereira
P2860
P2888
P356
10.1007/S00467-005-2054-Y
P407
P577
2006-01-01T00:00:00Z
P5875
P6179
1028284329