Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescenceThe dynamic cilium in human diseasesThe Chlamydomonas genome reveals the evolution of key animal and plant functions.Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingBBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyDissection of epistasis in oligogenic Bardet-Biedl syndromeRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminRetinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomographyBardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 proteinCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaBardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia functionBardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signalingThe DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Direct role of Bardet-Biedl syndrome proteins in transcriptional regulationIncreased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neuronsRecruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnessesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaC2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and humanThe Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionComparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneAn intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pigHomozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyThe blind leading the obese: the molecular pathophysiology of a human obesity syndromeA splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaClinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studyImpaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersLoss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeMechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors.Identification of ciliated sensory neuron-expressed genes in Caenorhabditis elegans using targeted pull-down of poly(A) tailsBardet-Biedl SyndromeThe role of primary cilia in the development and disease of the retinaJapanese studies on neural circuits and behavior of Caenorhabditis elegans
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
description
2003 nî lūn-bûn
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2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@ast
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en-gb
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@nl
type
label
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@ast
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en-gb
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@nl
prefLabel
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@ast
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en-gb
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@nl
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
@en
P2093
Alison J Ross
Allan K Mah
Bethan E Hoskins
Carmen C Leitch
Erica R Eichers
John C Cavender
Josephine Hill
Jun Chul Kim
Michel R Leroux
Philip L Beales
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P304
P3181
P356
10.1038/NATURE02030
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P577
2003-10-09T00:00:00Z
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1016900691