Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly - Wikidata - wikimedia - TriplyDB

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

http://www.wikidata.org/entity/Q28585659

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence The dynamic cilium in human diseases BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation BBS mutations modify phenotypic expression of CEP290-related ciliopathies Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3 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 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 Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors.Cellular Mechanisms of Ciliary Length Control Cilia in vertebrate development and disease The evolution of land plant cilia Axonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarification Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform Mouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.The BBSome controls IFT assembly and turnaround in cilia.CP110 and its network of partners coordinately regulate cilia assembly.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management Biology and therapy of inherited retinal degenerative disease: insights from mouse models A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

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Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

http://www.wikidata.org/entity/Q28585659

description

2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունիսին հրատարակված գիտական հոդված

@hy

article publié dans les Procee ...... f the United States of America

@fr

artículu científicu espublizáu en 2004

@ast

im Juni 2004 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2004/06/08)

@sk

vědecký článek publikovaný v roce 2004

@cs

wetenschappelijk artikel (gepubliceerd op 2004/06/08)

@nl

наукова стаття, опублікована в червні 2004

@uk

name

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@ast

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

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Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

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type

label

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@ast

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@en

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

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prefLabel

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@ast

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@en

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

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PNAS.0402354101

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Proceedings of the National Academy of Sciences of the United States of America

P1476

Bardet-Biedl syndrome type 4 ( ...... but not global cilia assembly

@en

P2093

Annie P. Chiang

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Baoli Yang

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Michael Andrews

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Robert F. Mullins

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Ruth E. Swiderski

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Terry Braun

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Thomas Casavant

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

Val C. Sheffield

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

P2860

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

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.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

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

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

Mutations in MKKS cause Bardet-Biedl syndrome.

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

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8664–8669

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scholarly article

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1376102

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10.1073/PNAS.0402354101

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23

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101

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2004-06-08T00:00:00Z

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8532423

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15173597

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Bardet-Biedl syndrome 4 (human)

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423252

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