The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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The dynamic cilium in human diseasesJoubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleTCTN3 mutations cause Mohr-Majewski syndromeA meckelin-filamin A interaction mediates ciliogenesisTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneMutations 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 syndromeLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinMeckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein CCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Mutations 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 elegansMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCongenital hypoplasia of the cerebellum: developmental causes and behavioral consequencesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formationCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe role of primary cilia in the development and disease of the retinaInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesNesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeAhi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingThe vertebrate primary cilium in development, homeostasis, and diseaseCiliopathiesThe Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization.Clinical and molecular features of Joubert syndrome and related disorders.Disease gene characterization through large-scale co-expression analysisNovel approaches to studying the genetic basis of cerebellar developmentJoubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Human genetic disorders of axon guidance.Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeEvidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways.
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P2860
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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2007 nî lūn-bûn
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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2007 թվականի հունվարին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@ast
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@en
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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type
label
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@ast
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@en
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@nl
prefLabel
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@ast
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@en
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
@en
P2093
Bernard Foliguet
Catherine Ozilou
Colin A Johnson
Ferechte Encha-Razavi
Lekbir Baala
Nicole Laurent
Pascale de Lonlay
Rana Khaddour
Remi Salomon
Sophie Audollent
P2860
P304
P3181
P356
10.1086/510499
P407
P50
P577
2007-01-01T00:00:00Z