| 1 | BBS1, BBS4
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| The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.
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| Prasai A, Schmidt Cernohorska M, Ruppova K, Niederlova V, Andelova M, Draber P, Stepanek O, Huranova M
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| J Biol Chem. Oct 16;295(42):14279-14290. doi: 10.1074/jbc.RA120.013905. Epub 2020 Aug 5 2020
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| 2 | BBS1
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| Smooth Muscle Cell-Specific Disruption of the BBSome Causes Vascular Dysfunction.
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| Reho JJ, Guo DF, Morgan DA, Rahmouni K.
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| Hypertension Oct;74(4):817-825. doi: 10.1161/HYPERTENSIONAHA.119.13382. Epub 2019 Aug 19 2019
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| 3 | ARL6, BBS1, BBS9
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| BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.
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| Nozaki S, Katoh Y, Kobayashi T, Nakayama K.
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| PLoS One. Mar 28;13(3):e0195005. doi: 10.1371/journal.pone.0195005. eCollection 2018. 2018
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| 4 | BBS1
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| The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.
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| Guo DF, Cui H, Zhang Q, Morgan DA, Thedens DR, Nishimura D, Grobe JL, Sheffield VC, Rahmouni K.
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| PLoS Genet. Feb 29;12(2):e1005890. doi: 10.1371/journal.pgen.1005890. eCollection 2016 Feb. 2016
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| 5 | ARL6, BBS1
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| Structural basis for membrane targeting of the BBSome by ARL6.
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| Mourão A, Nager AR, Nachury MV, Lorentzen E.
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| Nat Struct Mol Biol. Dec;21(12):1035-41. doi: 10.1038/nsmb.2920. Epub 2014 Nov 17 2014
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| 6 | ARL6, BBS1, BBS4, BBS5, PKD1, TTC8
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| Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
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| Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J.
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| Hum Mol Genet. 2014
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| 7 | BBS1, BBS4, TSG101
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| Basal body proteins regulate Notch signaling through endosomal trafficking.
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| Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA.
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| J Cell Sci. Jun 1;127(Pt 11):2407-19. doi: 10.1242/jcs.130344. Epub 2014 Mar 28 2014
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| 8 | ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, TTC8, WDPCP
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| Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
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| Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight M, Beales PL.
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| Hum Mol Genet 22(19):3858-68. doi: 10.1093/hmg/ddt241. Epub 2013 May 27.
2013
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| 9 | BBS1
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| Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
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| Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SH, Azam M, Collin RW, Cremers FP, Qamar R.
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| Mol Vis. 19:644-53. Epub 2013 Mar 21 2013
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| 10 | BBS1
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| Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
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| Feuillan PP, Ng D, Han JC, Sapp JC, Wetsch K, Spaulding E, Zheng YC, Caruso RC, Brooks BP, Johnston JJ, Yanovski JA, Biesecker LG.
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| J Clin Endocrinol Metab. Mar;96(3):E528-35. doi: 10.1210/jc.2010-2290. Epub 2011 Jan 5 2011
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| 11 | ARL6, BBS1, BBS10, BBS11, BBS12, BBS14, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, CEP290, MKKS, TRIM32, TTC8
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| Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
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| Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS.
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| J Med Genet 47(4):236-41. Epub 2009 Oct 26.
2010
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| 12 | BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS8
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| Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
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| Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F.
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| J Med Genet 47(4):262-7. Epub 2009 Sep 24.PMID: 19797195 2010
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| 13 | ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, MKKS, TRIM32, TTC8
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| Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
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| Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC.
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| Hum Mol Genet 18(7):1323-31. Epub 2009 Jan 15. 2009
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| 14 | BBS1, BBS2, BBS4
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| Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
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| Shah AS, Farmen SL, Moninger TO, Businga TR, Andrews MP, Bugge K, Searby CC, Nishimura D, Brogden KA, Kline JN, Sheffield VC, Welsh MJ.
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| Proc Natl Acad Sci U S A 105(9):3380-5. Epub 2008 Feb 25. 2008
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| 15 | BBS1, BBS12, TRIM32, BBS2, BBS10; ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9
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| Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
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| Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K.
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| Proc Natl Acad Sci U S A 105(11):4242-6. Epub 2008 Mar 11. 2008
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| 16 | BBS1, BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS9
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| Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
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| Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, Sheffield VC, Slusarski DC.
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| Hum Mol Genet 17(13):1956-67. Epub 2008 Apr 1.
2008
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| 17 | BBS1, BBS2, BBS4, BBS7
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| Novel interaction partners of Bardet-Biedl syndrome proteins.
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| Oeffner F, Moch C, Neundorf A, Hofmann J, Koch M, Grzeschik KH.
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| Cell Motil Cytoskeleton 65(2):143-55.
2008
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| 18 | BBS1, BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS9
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| A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
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| Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK.
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| Cell 129(6):1201-13. 2007
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| 19 | CCDC28B, BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9
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| Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
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| Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N.
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| Nature 439(7074):326-30. Epub 2005 Dec 4. 2006
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| 20 | BBS1, BBS2, BBS4, BBS5, MKKS, BBS7, TTC8
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| Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
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| Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC.
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| Hum Mol Genet 15(5):667-77. Epub 2006 Jan 6. 2006
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| 21 | BBS1
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| Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration.
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| Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.
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| Invest Ophthalmol Vis Sci 47(11):5004-10. 2006
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| 22 | BBS1
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| Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.
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| Fan Y, Green JS, Ross AJ, Beales PL, Parfrey PS, Davidson WS.
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| Hum Genet 116(1-2):62-71. Epub 2004 Oct 23. 2005
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| 23 | BBS2, BBS1, BBS4, BBS6, BBS7, BBS8
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| Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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| Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossee M, Dollfus H.
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| Eur J Hum Genet 13(5):607-16. 2005
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| 24 | BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8
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| Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
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| Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL.
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| Nat Genet 37(10):1135-40. Epub 2005 Sep 18. 2005
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| 25 | BBS8, BBS7, BBS6, BBS5, BBS4, BBS3, BBS2, BBS1, TTC8
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| The oligogenic properties of Bardet-Biedl syndrome.
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| Katsanis N.
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| Hum Mol Genet 13 Spec No 1:R65-71. Epub 2004 Feb 19. 2004
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| 26 | BBS1, BBS4
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| Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
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| Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N.
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| Nat Genet 36(9):994-8. Epub 2004 Aug 22. 2004
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| 27 | BBS1
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| Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
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| Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC.
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| Am J Hum Genet 72(2):429-37. 2003
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| 28 | BBS1, BBS2, BBS4, BBS6, BBS7
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| Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
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| Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.
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| Am J Hum Genet 72(5):1187-99. Epub 2003 Apr 03. 2003
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| 29 | BBS1, BBS2, BBS6
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| Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
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| Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N.
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| Hum Mol Genet 12(14):1651-9. 2003
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| 30 | BBS1
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| Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
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| Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC.
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| Nat Genet 31(4):435-8. 2002
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| 31 | BBS1, BBS2, BBS3, BBS4, BBS5
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| Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population : evidence for a fifth locus.
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| Woods MO, et al.
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| Genomics 55 : 2-9. 1999
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| 32 | BBS1
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| Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
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| Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR.
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| Am J Hum Genet 65(6):1672-9 1999
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| 33 | BBS1
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| A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.
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| Young TL, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS.
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| Am J Hum Genet 65(6):1680-7 1999
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| 34 | BBS1, SCA5
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| A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1.
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| Zhu S, Gerhard DS.
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| Hum Genet 103 : 674-680. 1998
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| 35 | BBS1, BBS2, BBS4
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| Bardet-Biedl syndrome : a molecular and phenotypic study of 18 families.
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| Beales PL, et al.
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| J Med Genet 34 : 92-98. 1997
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| 36 | BBS1, BBS2, BBS4
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| Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
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| Bruford EA, et al.
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| Genomics 41 : 93-99. 1997
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| 37 | BBS1, MS4A1, MEN1, SCA5
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| A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3.
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| Kitamura E, Hosoda F, Fukushima M, Asakawa S, Shimizu N, Imai T, Soeda E, Ohki M.
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| DNA Res 4(4):281-9. 1997
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| 38 | BBS1
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| Homozygosity mapping in a consanguineous newfoundland kindred narrows the critical region of Bardet-Biedl syndrome on 11q (BBS1). (abstr)
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| Young TL, et al.
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| Am J Hum Genet 61 : A302. 1997
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| 39 | BBS1
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| Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
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| Leppert M, et al.
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| Nat Genet 7 : 108-112. 1994
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| 40 | BBS1, BBS2
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| Genetic linkage analysis in 26 families with Bardet-Biedl syndrome. (abstr)
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| Wright AF, et al.
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| Am J Hum Genet 55 : A208. 1994
|