| 1 | BBS7, CEP290, KCTD13
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| A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
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| Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.
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| Am J Hum Genet 96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.
2015
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| 2 | BBS7, PRICKLE2
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| Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
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| Mei X, Westfall TA, Zhang Q, Sheffield VC, Bassuk AG, Slusarski DC.
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| Dev Biol 392(2):245-55. doi: 10.1016/j.ydbio.2014.05.020. Epub 2014 Jun 2.
2014
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| 3 | 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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| 4 | BBS2, BBS7
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| BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
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| Zhang Q, Nishimura D, Vogel T, Shao J, Swiderski R, Yin T, Searby C, Carter CS, Kim G, Bugge K, Stone EM, Sheffield VC.
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| J Cell Sci 126(Pt 11):2372-80. doi: 10.1242/jcs.111740. Epub 2013 Apr 9.
2013
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| 5 | BBS2, BBS7, BBS9
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| Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
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| Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC.
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| J Biol Chem 287(24):20625-35. doi: 10.1074/jbc.M112.341487. Epub 2012 Apr 12.
2012
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| 6 | BBS7
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| Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
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| Gascue C, Tan PL, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL.
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| J Cell Sci 125(Pt 2):362-75. doi: 10.1242/jcs.089375. Epub 2012 Feb 2.
2012
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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 | BBS7, BBS8, TTC8
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| BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
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| Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E.
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| Hum Mutat 30(7):E737-46.PMID: 19402160 2009
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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, 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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| 20 | 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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| 21 | 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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| 22 | BBS7
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| Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
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| Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N.
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| Am J Hum Genet 72(3):650-8. 2003
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| 23 | 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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