1 | BBS5, BBS6, BBS8
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| Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice.
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| Kretschmer V, Patnaik SR, Kretschmer F, Chawda MM, Hernandez-Hernandez V, May-Simera HL.
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| Invest Ophthalmol Vis Sci. Mar 1;60(4):1132-1143. doi: 10.1167/iovs.18-25210. 2019
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2 | ARL13B, BBS5, ERICH3
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| ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins.
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| Alsolami M, Kuhns S, Alsulami M, Blacque OE.
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| Sci Rep. Nov 11;9(1):16519. doi: 10.1038/s41598-019-52830-1 2019
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3 | BBS4, BBS5, PKD2
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| BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.
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| Xu Q, Zhang Y, Wei Q, Huang Y, Li Y, Ling K, Hu J.
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| Sci Rep. Jul 7;5:11855. doi: 10.1038/srep11855. 2015
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4 | 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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5 | BBS5
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| Functional modelling of a novel mutation in BBS5.
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| Al-Hamed MH, van Lennep C, Hynes AM, Chrystal P, Eley L, Al-Fadhly F, El Sayed R, Simms RJ, Meyer B, Sayer JA.
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| Cilia Feb 21;3(1):3. doi: 10.1186/2046-2530-3-3. 2014
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6 | 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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7 | 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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8 | 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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9 | 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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10 | BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BVS1
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| Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
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| Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H.
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| Proc Natl Acad Sci U S A 106(6):1820-5. Epub 2009 Feb 3.
2009
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11 | BBS4, BBS5, BBS7, RET
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| Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
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| de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J.
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| Proc Natl Acad Sci U S A 106(33):13921-6. Epub 2009 Jul 31.
2009
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12 | BBS5
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| Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
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| Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K.
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| Am J Med Genet A 146(4):517-20. No abstract available. 2008
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13 | 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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14 | 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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15 | 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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16 | 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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17 | 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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18 | 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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19 | 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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20 | BBS5
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| Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
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| Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK.
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| Cell 117(4):541-52. 2004
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21 | BBS2, BBS3, BBS4, BBS5, MKKS
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| Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
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| Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR.
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| Am J Hum Genet 68(3):606-16. 2001
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22 | 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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23 | BBS5
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| A fifth locus for bardet-biedl syndrome maps to chromosome 2q31.
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| Young TL, et al.
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| Am J Hum Genet 64(3):900-4. No abstract available 1999
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