BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. - Test2 - elhamkhani - TriplyDB

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

http://www.wikidata.org/entity/Q34508395

about

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 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.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 Guidelines for the nomenclature of the human heat shock proteins Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation 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 Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function 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 Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.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 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes The primary cilium: a signalling centre during vertebrate development The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella.Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics Unraveling the genetics of human obesity.New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.Essential role of the chaperonin CCT in rod outer segment biogenesis Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl 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 Murine gut microbiota is defined by host genetics and modulates variation of metabolic traits Disruption of the chaperonin containing TCP-1 function affects protein networks essential for rod outer segment morphogenesis and survival.Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping 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.

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P2860

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

http://www.wikidata.org/entity/Q34508395

description

2006 nî lūn-bûn

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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի ապրիլին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@ast

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@en

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@nl

type

label

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@ast

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@en

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@nl

prefLabel

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@ast

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@en

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@nl

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Nature Genetics

P1476

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

@en

P2093

Alice S Brooks

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

André Mégarbané

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

Bruno Leheup

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

Béatrice Rossillion

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

Carmen C Leitch

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Christian Hamel

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

Corinne Stoetzel

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

Dominique Bonneau

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

Eliane Chouery

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

Erica E Davis

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

P2860

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

Dissection of epistasis in oligogenic 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 gene

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

Crystal structure of the thermosome, the archaeal chaperonin and homolog of CCT

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

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

P2888

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521-524

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scholarly article

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10.1038/NG1771

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5

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38

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Jean-Louis Mandel

Nicholas Katsanis

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2006-04-02T00:00:00Z

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16582908

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