Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q28593460

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence The dynamic cilium in human diseases An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue.Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease 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 A novel hook-related protein family and the characterization of hook-related protein 1 Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome 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.Specialized Cilia in Mammalian Sensory Systems Cilia in vertebrate development and disease Smelling the roses and seeing the light: gene therapy for ciliopathies Characterization of tetratricopeptide repeat-containing proteins critical for cilia formation and function Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans Adult type 3 adenylyl cyclase-deficient mice are obese Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium Mouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Centriolar satellites: key mediators of centrosome functions Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity DISC1-dependent switch from progenitor proliferation to migration in the developing cortex Alms1-disrupted mice recapitulate human Alström syndrome.Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting Tubby is required for trafficking G protein-coupled receptors to neuronal cilia The primary cilium: a signalling centre during vertebrate development

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

http://www.wikidata.org/entity/Q28593460

description

2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

articolo scientifico

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artículu científicu espublizáu en 2004

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im September 2004 veröffentlichter wissenschaftlicher Artikel

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scientific journal article

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vedecký článok (publikovaný 2004/09/01)

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vědecký článek publikovaný v roce 2004

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wetenschappelijk artikel (gepubliceerd op 2004/09/01)

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наукова стаття, опублікована у вересні 2004

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Nature Genetics

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Loss of BBS proteins causes an ...... ture and function in the mouse

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Alysa Lesemann

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Bethan E. Hoskins

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Carmen C. Leitch

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Erica R. Eichers

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Heather M. Kulaga

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Philip L. Beales

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Randall R. Reed

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P2860

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

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

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.

Intraflagellar transport

Disruption of the type III adenylyl cyclase gene leads to peripheral and behavioral anosmia in transgenic mice

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

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

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

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994–998

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1376101

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10.1038/NG1418

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9

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36

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Nicholas Katsanis

James R. Lupski

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2004-09-01T00:00:00Z

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8388582

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15322545

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Bardet-Biedl syndrome 4 (human)

Bardet-Biedl syndrome 1 (human)

protein structure