Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
about
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescenceThe dynamic cilium in human diseasesAn 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 diseaseBBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesA novel hook-related protein family and the characterization of hook-related protein 1Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnessesCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaHomozygosity 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 modelCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese familyDefects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndromeLoss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionMechanism 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 SystemsCilia in vertebrate development and diseaseSmelling the roses and seeing the light: gene therapy for ciliopathiesCharacterization of tetratricopeptide repeat-containing proteins critical for cilia formation and functionAcute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesMutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegansAdult type 3 adenylyl cyclase-deficient mice are obeseRenal cystic disease proteins play critical roles in the organization of the olfactory epitheliumMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Centriolar satellites: key mediators of centrosome functionsBbs2-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 vertebratesBardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary ciliaGene 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 integrityIntraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brainA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityDISC1-dependent switch from progenitor proliferation to migration in the developing cortexAlms1-disrupted mice recapitulate human Alström syndrome.Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targetingTubby is required for trafficking G protein-coupled receptors to neuronal ciliaThe primary cilium: a signalling centre during vertebrate development
P2860
Q21092494-ADB610EE-6938-4E9D-B05D-C2902205A4B0Q21202039-52B5A8BC-18C0-42EC-85A3-FF6F43A6E62CQ22001107-6E36FB17-6359-4049-BCDA-BE66504DD7E7Q24292909-97CF986A-EE25-4104-BD1F-C2B6B482A29AQ24295491-03F7C83B-6B08-427B-81AD-68E65D80CAA8Q24298940-2DCBFF81-354E-49F1-BE86-9E135A899482Q24301661-B1F15EB8-628A-4409-8BF6-0A0DE8E2E3AFQ24309410-07D02B9E-938C-405C-A09F-182E14302AAFQ24310530-333F2021-48AD-4BE5-AB34-6A91B3B54CF2Q24317556-F87A6DFA-BFBB-4E72-9FEC-E376C399CC27Q24546392-F421BA76-BB29-4422-B90E-93B7DC58ED3DQ24629863-C2BB9301-17D8-4F52-9C3C-E32739D0A8D8Q24644138-7BFEB751-53C4-498F-AD4F-F893B22A24BAQ24644846-8A7CE3D9-07BB-430B-97D1-1F83EEFF26D5Q24648502-BB1BAA35-D551-48B0-A5D2-D917953D696BQ24678735-A9F1E055-991D-4E89-AE59-7289FAE86710Q24682888-C955C283-30B4-45CD-9E1D-8682B8586743Q26785912-812CEBCE-E476-46F1-8317-BAAEA6EC6B65Q26829114-AC3CC778-8EE8-4A41-BFBF-4777C955AD2EQ26829936-D4637C14-CD5C-4FE8-92DB-535BE3B663D5Q27309098-E23F92C9-A984-4D02-9C1D-347B049A45E7Q27319882-44E9235D-452E-4233-9EAF-C6A74657BADDQ27335893-FD08D354-5F2A-4BC6-80D6-4098CE305C40Q27342322-5EC2542D-695E-48BA-81BD-104849C16A8DQ27342510-A1E25940-A67B-4B07-9D04-AD41D9B4DCE7Q27692039-64C7A1C4-04FF-442C-9AE1-65B04183E1BCQ27967648-52A9E55E-8942-485B-AC00-29084801E8C7Q28247031-4AB0B9BC-9357-4F9A-925C-75635F5954A4Q28292806-E6E0A8F0-1CC3-477C-A42B-C65270B3A75FQ28506652-300DC149-E20A-45E8-B29B-30F5DBEB7FD7Q28506905-458038D3-8A5C-4C95-ACC9-DF8ED901E417Q28507533-B5A110D6-A87A-4C79-BFAF-DDDA4BE26FF9Q28507884-B29A042B-7486-4462-9472-CBB44C5A811AQ28510663-FB5427B2-E854-441F-A71E-2F8E5D719D14Q28513461-90E54D56-9EF0-46C7-8FDE-7008A4E4B75EQ28585480-6A139D15-89DD-4C23-BA14-C4D9CDCFB7ECQ28588862-524170D1-1D9B-4B94-9A16-062538D19BECQ28591892-61A19650-4E06-47ED-AB61-5E13CD4984C2Q29347244-7D901504-B005-4A82-91C1-B7DE018DFC55Q29547197-DB6079E6-6647-452B-8184-ECE3713CE328
P2860
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
description
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2004
@ast
im September 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/09/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/09/01)
@nl
наукова стаття, опублікована у вересні 2004
@uk
name
Loss of BBS proteins causes an ...... ture and function in the mouse
@ast
Loss of BBS proteins causes an ...... ture and function in the mouse
@en
Loss of BBS proteins causes an ...... ture and function in the mouse
@nl
type
label
Loss of BBS proteins causes an ...... ture and function in the mouse
@ast
Loss of BBS proteins causes an ...... ture and function in the mouse
@en
Loss of BBS proteins causes an ...... ture and function in the mouse
@nl
prefLabel
Loss of BBS proteins causes an ...... ture and function in the mouse
@ast
Loss of BBS proteins causes an ...... ture and function in the mouse
@en
Loss of BBS proteins causes an ...... ture and function in the mouse
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Loss of BBS proteins causes an ...... ture and function in the mouse
@en
P2093
Alysa Lesemann
Bethan E. Hoskins
Carmen C. Leitch
Erica R. Eichers
Heather M. Kulaga
Philip L. Beales
Randall R. Reed
P2860
P2888
P304
P3181
P356
10.1038/NG1418
P407
P577
2004-09-01T00:00:00Z