Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
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The dynamic cilium in human diseasesDissection of epistasis in oligogenic Bardet-Biedl syndromeBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationNephrocystin-3 is required for ciliary function in zebrafish embryosThe Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionGenetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Comparative 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 geneHomozygosity 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 transportThe blind leading the obese: the molecular pathophysiology of a human obesity syndromeClinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studyA novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese familyIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeBardet-Biedl SyndromeThe role of primary cilia in the development and disease of the retinaIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformThe nonmotile ciliopathies.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementBbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeLeptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityBardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyLoss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseTctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesisThe primary cilium: a signalling centre during vertebrate developmentWormQTLHD--a web database for linking human disease to natural variation data in C. elegans.Prioritization of retinal disease genes: an integrative approachFunctional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Genetic kidney diseases.Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningQilin is essential for cilia assembly and normal kidney development in zebrafishMORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
P2860
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P2860
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
description
2003 nî lūn-bûn
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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
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
@wuu
name
Identification of a novel Bard ...... al features with BBS1 and BBS2
@nl
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@ast
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en-gb
type
label
Identification of a novel Bard ...... al features with BBS1 and BBS2
@nl
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@ast
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en-gb
prefLabel
Identification of a novel Bard ...... al features with BBS1 and BBS2
@nl
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@ast
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en-gb
P2093
P2860
P3181
P356
P1476
Identification of a novel Bard ...... l features with BBS1 and BBS2.
@en
P2093
Carmen C Leitch
James R Lupski
Richard Alan Lewis
Stephen J Ansley
P2860
P304
P3181
P356
10.1086/368204
P407
P577
2003-02-03T00:00:00Z