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

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

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

http://www.wikidata.org/entity/Q28210285

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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 Dissection of epistasis in oligogenic Bardet-Biedl syndrome 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 The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression 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)On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene Homozygosity 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 transport The blind leading the obese: the molecular pathophysiology of a human obesity syndrome Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance 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.Genetic & epigenetic approach to human obesity Biology and therapy of inherited retinal degenerative disease: insights from mouse models Bbs2-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 syndrome Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse The primary cilium: a signalling centre during vertebrate development Prioritization of retinal disease genes: an integrative approach High-throughput gene discovery in the rat.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome Antenatal 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 patterning Molecular basis of autosomal recessive diseases among the Palestinian Arabs.

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P2860

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

http://www.wikidata.org/entity/Q28210285

description

2001 nî lūn-bûn

@nan

2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի ապրիլին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

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

@ast

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

@en

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

@nl

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Human Molecular Genetics

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

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P2093

A B Fulton

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A E Kwitek-Black

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A Iannaccone

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B L Lam

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B R Powell

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C C Searby

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D Bonneau

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D M Duhl

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D Y Nishimura

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E Heon

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8

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31469880

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11285252

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