Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function - Test2 - elhamkhani - TriplyDB

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

http://www.wikidata.org/entity/Q24300539

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The dynamic cilium in human diseases BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein 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 Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses Nephrocystin-3 is required for ciliary function in zebrafish embryos TRIM32 is an E3 ubiquitin ligase for dysbindin 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 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome 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 A Tale of Two Joints: The Role of Matrix Metalloproteases in Cartilage Biology Retinal remodeling in human retinitis pigmentosa Molecular views of Arf-like small GTPases in cilia and ciliopathies Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform The BBSome controls IFT assembly and turnaround in cilia.CP110 and its network of partners coordinately regulate cilia assembly.IFT-Cargo Interactions and Protein Transport in Cilia A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella.

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P2860

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

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2006 nî lūn-bûn

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2006 թուականի Մարտին հրատարակուած գիտական յօդուած

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2006 թվականի մարտին 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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name

Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Human Molecular Genetics

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Bardet-Biedl syndrome genes ar ...... pffer's vesicle cilia function

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Hsan-Jan Yen

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Marwan K Tayeh

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P2860

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

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

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

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

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

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667-677

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scholarly article

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1007378

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10.1093/HMG/DDI468

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P433

5

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15

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Diane C Slusarski

Robert F. Mullins

Val C Sheffield

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2006-01-06T00:00:00Z

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7371638

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16399798

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cilium morphogenesis

Bardet-Biedl syndrome 4