| P50 | author | William Y Tsang | Q55727041 |
| P2093 | author name string | Johan Peränen | |
| | Marine Barbelanne | |
| | Delowar Hossain | |
| | David Puth Chan | |
| P2860 | cites work | Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 |
| | BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly | Q24295491 |
| | Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome | Q24296493 |
| | A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened | Q24296671 |
| | Cep164, a novel centriole appendage protein required for primary cilium formation | Q24298367 |
| | BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes | Q24301377 |
| | Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling | Q24301800 |
| | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 |
| | CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium | Q24310530 |
| | A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis | Q24311615 |
| | Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome | Q24313282 |
| | BBS mutations modify phenotypic expression of CEP290-related ciliopathies | Q24317466 |
| | Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia | Q24317556 |
| | A BBSome subunit links ciliogenesis, microtubule stability, and acetylation | Q24336047 |
| | The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia | Q24337528 |
| | The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome | Q24337792 |
| | The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation | Q24337819 |
| | The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | Q24337908 |
| | Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11) | Q24546392 |
| | A motility in the eukaryotic flagellum unrelated to flagellar beating | Q24562713 |
| | CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease | Q24568058 |
| | Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration | Q24617850 |
| | CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 | Q24644138 |
| | 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 | Q24671808 |
| | The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization | Q26825968 |
| | MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis | Q28000044 |
| | A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 |
| | A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain | Q28000085 |
| | The BBSome controls IFT assembly and turnaround in cilia | Q28000109 |
| | Assembling a primary cilium | Q28000134 |
| | CP110 and its network of partners coordinately regulate cilia assembly | Q28000138 |
| | Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis | Q28114986 |
| | Genetic and physical interaction between the NPHP5 and NPHP6 gene products | Q28118065 |
| | Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers | Q28284725 |
| | Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia | Q28506905 |
| | Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia | Q28585433 |
| | Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly | Q28585659 |
| | A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia | Q29026303 |
| | Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia | Q29346954 |
| | Ciliopathies | Q29614821 |
| | CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. | Q29614822 |
| | Centrioles, centrosomes, and cilia in health and disease | Q29615173 |
| | Direct observation of individual endogenous protein complexes in situ by proximity ligation | Q29616032 |
| | The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella | Q30435765 |
| | The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport. | Q30478403 |
| | Centrioles: active players or passengers during mitosis? | Q33903451 |
| | Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis | Q33919616 |
| | The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries | Q34221115 |
| | MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis | Q34397616 |
| | NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone. | Q34433457 |
| | Stages of ciliogenesis and regulation of ciliary length | Q35718497 |
| | Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins | Q36011180 |
| | The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium | Q36202725 |
| | A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia | Q36650564 |
| | BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking | Q36920886 |
| | Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy | Q37111349 |
| | Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. | Q37635389 |
| | The centrosome in cells and organisms | Q37979201 |
| | Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing | Q38295404 |
| | Rab8 promotes polarized membrane transport through reorganization of actin and microtubules in fibroblasts | Q41163756 |
| | Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region. | Q51945543 |
| | IQCB1 mutations in patients with leber congenital amaurosis. | Q54408817 |
| | Genotype-phenotype correlations in Bardet-Biedl syndrome | Q83629691 |
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 8 | |
| P304 | page(s) | 2185-2200 | |
| P577 | publication date | 2015-04-15 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery | |
| P478 | volume | 24 | |