Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene - Wikidata - awgldk - TriplyDB

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

http://www.wikidata.org/entity/Q24538328

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The dynamic cilium in human diseases BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71 Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)The blind leading the obese: the molecular pathophysiology of a human obesity syndrome A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome Bardet-Biedl Syndrome The role of primary cilia in the development and disease of the retina Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform The nonmotile ciliopathies.IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects The primary cilium: a signalling centre during vertebrate development The proteome of the mouse photoreceptor sensory cilium complex Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics Prioritization of retinal disease genes: an integrative approach Unraveling the genetics of human obesity.Gene Ontology term overlap as a measure of gene functional similarity New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome 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 patterning Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.Ciliopathies: an expanding disease spectrum.Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.Regulation of gene expression in the mammalian eye and its relevance to eye disease.Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

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Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

http://www.wikidata.org/entity/Q24538328

description

2005 nî lūn-bûn

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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

@zh-hk

2005年論文

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2005年論文

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2005年论文

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name

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

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Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

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Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

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type

label

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@ast

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@en

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@nl

prefLabel

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@ast

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@en

Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

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American Journal of Human Genetics

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Comparative genomics and gene ...... new Bardet-Biedl syndrome gene

@en

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Amanda L Ferguson

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Darryl Y Nishimura

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Erik M Berg

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Richard G Weleber

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Ruth E Swiderski

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Saul Merin

http://www.w3.org/2001/XMLSchema#string

Val C Sheffield

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P2860

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Genetic 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)

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

Basic local alignment search tool

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

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1021-1033

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scholarly article

P356

10.1086/498323

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P433

6

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P478

77

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Charles C Searby

Leslie G Biesecker

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2005-10-26T00:00:00Z

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P5875

7390310

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16380913

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1285160

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