{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:03:28Z","timestamp":1791216208061,"version":"4.1.0"},"reference-count":62,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2010,3,19]],"date-time":"2010-03-19T00:00:00Z","timestamp":1268956800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1000884","type":"journal-article","created":{"date-parts":[[2010,3,18]],"date-time":"2010-03-18T21:37:46Z","timestamp":1268948266000},"page":"e1000884","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":75,"title":["Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform"],"prefix":"10.1371","volume":"6","author":[{"given":"Pamela R.","family":"Pretorius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Baye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl Y.","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles C.","family":"Searby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Bugge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoli","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Mullins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane C.","family":"Slusarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2010,3,19]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1056\/NEJM198910123211503","article-title":"The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.","volume":"321","author":"JS Green","year":"1989","journal-title":"N Engl J Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1056\/NEJM198809083191005","article-title":"The spectrum of renal disease in Laurence-Moon-Biedl syndrome.","volume":"319","author":"JD Harnett","year":"1988","journal-title":"N Engl J Med"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/j.1550-8528.1995.tb00165.x","article-title":"On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.","volume":"3","author":"G Bardet","year":"1995","journal-title":"Obes Res"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/j.1550-8528.1995.tb00167.x","article-title":"A pair of siblings with adiposo-genital dystrophy. 1922.","volume":"3","author":"A Biedl","year":"1995","journal-title":"Obes Res"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/ajmg.1320520208","article-title":"Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.","volume":"52","author":"K Elbedour","year":"1994","journal-title":"Am J Med Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/0002-9394(88)90586-7","article-title":"Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome.","volume":"106","author":"MJ Leys","year":"1988","journal-title":"Am J Ophthalmol"},{"key":"ref7","first-page":"128","article-title":"Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases.","volume":"Ophthalmol","author":"R Riise","year":"1987","journal-title":"Acta"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/S0002-9394(14)72436-5","article-title":"Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.","volume":"109","author":"SG Jacobson","year":"1990","journal-title":"Am J Ophthalmol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.34.2.92","article-title":"Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.","volume":"34","author":"PL Beales","year":"1997","journal-title":"J Med Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ajmg.1320590216","article-title":"Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.","volume":"59","author":"R Carmi","year":"1995","journal-title":"Am J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1136\/bjo.81.5.378","article-title":"Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.","volume":"81","author":"R Riise","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1001\/archopht.1993.01090110066026","article-title":"Natural course of visual functions in the Bardet-Biedl syndrome.","volume":"111","author":"AB Fulton","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.a.30466","article-title":"Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.","volume":"132A","author":"E Heon","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.","volume":"31","author":"K Mykytyn","year":"2002","journal-title":"Nat Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","article-title":"Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).","volume":"10","author":"DY Nishimura","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1086\/423903","article-title":"Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).","volume":"75","author":"AP Chiang","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng1414","article-title":"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.","volume":"36","author":"Y Fan","year":"2004","journal-title":"Nat Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/88925","article-title":"Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.","volume":"28","author":"K Mykytyn","year":"2001","journal-title":"Nat Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","article-title":"Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.","volume":"117","author":"JB Li","year":"2004","journal-title":"Cell"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/79201","article-title":"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.","volume":"26","author":"N Katsanis","year":"2000","journal-title":"Nat Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/79116","article-title":"Mutations in MKKS cause Bardet-Biedl syndrome.","volume":"26","author":"AM Slavotinek","year":"2000","journal-title":"Nat Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","article-title":"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.","volume":"72","author":"JL Badano","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","article-title":"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.","volume":"425","author":"SJ Ansley","year":"2003","journal-title":"Nature"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1086\/498323","article-title":"Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.","volume":"77","author":"DY Nishimura","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/ng1771","article-title":"BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.","volume":"38","author":"C Stoetzel","year":"2006","journal-title":"Nat Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"6287","DOI":"10.1073\/pnas.0600158103","article-title":"Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).","volume":"103","author":"AP Chiang","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/510256","article-title":"Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.","volume":"80","author":"C Stoetzel","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/ng.97","article-title":"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.","volume":"40","author":"CC Leitch","year":"2008","journal-title":"Nat Genet"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.","volume":"101","author":"K Mykytyn","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"16588","DOI":"10.1073\/pnas.0405496101","article-title":"Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.","volume":"101","author":"DY Nishimura","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1093\/hmg\/ddi123","article-title":"Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.","volume":"14","author":"MA Fath","year":"2005","journal-title":"Hum Mol Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"19422","DOI":"10.1073\/pnas.0708571104","article-title":"A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.","volume":"104","author":"RE Davis","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1083\/jcb.33.1.61","article-title":"The renewal of photoreceptor cell outer segments.","volume":"33","author":"RW Young","year":"1967","journal-title":"J Cell Biol"},{"key":"ref34","first-page":"389","article-title":"The photoreceptor connecting cilium. A model for for the transition zone.","author":"JC Besharse","year":"1990"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1242\/jcs.029397","article-title":"The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors.","volume":"121","author":"BL Krock","year":"2008","journal-title":"J Cell Sci"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.200107108","article-title":"The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance.","volume":"157","author":"GJ Pazour","year":"2002","journal-title":"J Cell Biol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.visres.2007.08.022","article-title":"Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors.","volume":"48","author":"K Luby-Phelps","year":"2008","journal-title":"Vision Res"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/S0896-6273(04)00268-5","article-title":"Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.","volume":"42","author":"M Tsujikawa","year":"2004","journal-title":"Neuron"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.visres.2008.12.009","article-title":"Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants.","volume":"49","author":"S Sukumaran","year":"2009","journal-title":"Vision Res"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"3394","DOI":"10.1016\/j.visres.2007.09.016","article-title":"Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.","volume":"47","author":"MM Abd-El-Barr","year":"2007","journal-title":"Vision Res"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"3329","DOI":"10.1167\/iovs.06-1477","article-title":"Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.","volume":"48","author":"RE Swiderski","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1093\/hmg\/ddi468","article-title":"Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer&apos;s vesicle cilia function.","volume":"15","author":"HJ Yen","year":"2006","journal-title":"Hum Mol Genet"},{"key":"ref43","article-title":"Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.","author":"MK Tayeh","year":"2008","journal-title":"Hum Mol Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1101\/gad.1194004","article-title":"Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.","volume":"18","author":"OE Blacque","year":"2004","journal-title":"Genes Dev"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1093\/embo-reports\/kvf221","article-title":"Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for &apos;front-back&apos; communication.","volume":"3","author":"S Pasqualato","year":"2002","journal-title":"EMBO Rep"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1006\/dbio.1998.9031","article-title":"Retinal neurogenesis: the formation of the initial central patch of postmitotic cells.","volume":"207","author":"M Hu","year":"1999","journal-title":"Dev Biol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/jemt.10164","article-title":"The cytoskeleton in fish melanophore melanosome positioning.","volume":"58","author":"HN Skold","year":"2002","journal-title":"Microsc Res Tech"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1600-0749.2004.00138.x","article-title":"The melanosome as a model to study organelle motility in mammals.","volume":"17","author":"DC Barral","year":"2004","journal-title":"Pigment Cell Res"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1038\/35096009","article-title":"The melanosome: membrane dynamics in black and white.","volume":"2","author":"MS Marks","year":"2001","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/nrm732","article-title":"Secretory lysosomes.","volume":"3","author":"EJ Blott","year":"2002","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1146\/annurev.cellbio.19.111401.092937","article-title":"Pigment cells: a model for the study of organelle transport.","volume":"19","author":"AA Nascimento","year":"2003","journal-title":"Annu Rev Cell Dev Biol"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/(SICI)1096-9861(19990222)404:4<515::AID-CNE8>3.0.CO;2-A","article-title":"Early retinal development in the zebrafish, Danio rerio: light and electron microscopic analyses.","volume":"404","author":"EA Schmitt","year":"1999","journal-title":"J Comp Neurol"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1006\/dbio.1996.0335","article-title":"The development of vision in the zebrafish (Danio rerio).","volume":"180","author":"SS Easter Jr","year":"1996","journal-title":"Dev Biol"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/cne.902240110","article-title":"The development of photoreceptors in the zebrafish, brachydanio rerio. II. Function.","volume":"224","author":"T Branchek","year":"1984","journal-title":"J Comp Neurol"},{"key":"ref55","first-page":"481","article-title":"Isolation and characterization of a zebrafish homologue of the cone rod homeobox gene.","volume":"42","author":"Y Liu","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.ydbio.2004.01.037","article-title":"Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis.","volume":"269","author":"YC Shen","year":"2004","journal-title":"Dev Biol"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1242\/dev.00465","article-title":"N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites.","volume":"130","author":"I Masai","year":"2003","journal-title":"Development"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1017\/S0952523899163168","article-title":"Cloning and characterization of six zebrafish photoreceptor opsin cDNAs and immunolocalization of their corresponding proteins.","volume":"16","author":"TS Vihtelic","year":"1999","journal-title":"Vis Neurosci"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/dvdy.1188","article-title":"Rod contributions to the electroretinogram of the dark-adapted developing zebrafish.","volume":"222","author":"J Bilotta","year":"2001","journal-title":"Dev Dyn"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ar.1092120215","article-title":"Cell differentiation in the retina of the mouse.","volume":"212","author":"RW Young","year":"1985","journal-title":"Anat Rec"},{"key":"ref61","article-title":"Clinical and Molecular Characterization of Bardet-Biedl Syndrome in Consanguineous Populations: The Power of Homozygosity Mapping.","author":"L Abu Safieh","year":"2009","journal-title":"J Med Genet"},{"key":"ref62","article-title":"The Zebrafish book. A guide for the laboratory use of zebrafish (<italic>Brachydanio rerio<\/italic>).","author":"M Westerfield","year":"1993"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1000884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T06:00:45Z","timestamp":1558936845000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1000884"}},"subtitle":[],"editor":[{"given":"Akihiro","family":"Ikeda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2010,3,19]]},"references-count":62,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,3,19]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1000884","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,19]]}}}