The Ciliopathies: An Emerging Class of Human Genetic Disorders
about
Identification and characterization of novel human tissue-specific RFX transcription factorsCommon variants in left/right asymmetry genes and pathways are associated with relative hand skillThe dynamic cilium in human diseasesJoubert Syndrome and related disordersA complex of BBS1 and NPHP7 is required for cilia motility in zebrafishIdentification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mappingBasal body stability and ciliogenesis requires the conserved component Poc1BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyA novel protein LZTFL1 regulates ciliary trafficking of the BBSome and SmoothenedRTTN mutations link primary cilia function to organization of the human cerebral cortexStructural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.Cep164, a novel centriole appendage protein required for primary cilium formationCentriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyBardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signalingOfd1, a human disease gene, regulates the length and distal structure of centriolesThe spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesisDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationRAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsThe Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesisCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumThe novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zoneLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaThe Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formationTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinBBS mutations modify phenotypic expression of CEP290-related ciliopathiesOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinFunctional dissection of Rab GTPases involved in primary cilium formationINPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouseThe Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactionsThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansSubunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteinsA splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelThe role of primary cilia in neuronal function
P2860
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P2860
The Ciliopathies: An Emerging Class of Human Genetic Disorders
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին 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
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@ast
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en-gb
The Ciliopathies: An Emerging Class of Human Genetic Disorders
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type
label
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@ast
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en-gb
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@nl
altLabel
The ciliopathies: an emerging class of human genetic disorders
@en
prefLabel
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@ast
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en-gb
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@nl
P3181
P1476
The Ciliopathies: An Emerging Class of Human Genetic Disorders
@en
P2093
Norimasa Mitsuma
Phil L. Beales
P304
P3181
P356
10.1146/ANNUREV.GENOM.7.080505.115610
P407
P577
2006-09-01T00:00:00Z