about
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyDissection of epistasis in oligogenic Bardet-Biedl syndromeCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisThe Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionIdentification 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)Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociOn the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic interventionComparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneLoss 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 syndromeEvaluation 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 studyBBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceA 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 retinaGenetics of congenital heart disease: the glass half emptyIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformThe nonmotile ciliopathies.Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsBbs2-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 syndrome09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotypeLeptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeBardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationA 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 assemblyFunctional 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 patterningThe human obesity gene map: the 2000 update.Hirschsprung disease, associated syndromes, and genetics: a review.MORM 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.The human obesity gene map: the 2001 update.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
name
Mutations in MKKS cause Bardet-Biedl syndrome.
@ast
Mutations in MKKS cause Bardet-Biedl syndrome.
@en
type
label
Mutations in MKKS cause Bardet-Biedl syndrome.
@ast
Mutations in MKKS cause Bardet-Biedl syndrome.
@en
prefLabel
Mutations in MKKS cause Bardet-Biedl syndrome.
@ast
Mutations in MKKS cause Bardet-Biedl syndrome.
@en
P2093
P356
P1433
P1476
Mutations in MKKS cause Bardet-Biedl syndrome.
@en
P2093
Biesecker LG
Heckenlively JR
Musarella MA
Parfrey PS
Sheffield VC
Slavotinek AM
P2888
P356
10.1038/79116
P407
P577
2000-09-01T00:00:00Z
P5875
P6179
1008849897