Citations for
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print] 2014
BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF.
Leitch CC, Zaghloul NA.
PLoS One 9(5):e98687. doi: 10.1371/journal.pone.0098687. eCollection 2014. 2014
Ccdc13; a novel human centriolar satellite protein required for ciliogenesis and genome stability.
Staples CJ, Myers KN, Beveridge RD, Patil AA, Howard AE, Barone G, Lee AJ, Swanton C, Howell M, Maslen S, Skehel JM, Boulton SJ, Collis SJ.
J Cell Sci Cell Sci. 2014 May 9. [Epub ahead of print] 2014
Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.
Agassandian K, Patel M, Agassandian M, Steren KE, Rahmouni K, Sheffield VC, Card JP.
PLoS One 9(4):e93484. doi: 10.1371/journal.pone.0093484. eCollection 2014. 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print] 2014
BBS4 directly affects proliferation and differentiation of adipocytes.
Aksanov O, Green P, Birk RZ.
Cell Mol Life Sci ell Mol Life Sci. 2014 Feb 6. [Epub ahead of print] 2014
7BBS4, CEP131
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC.
PLoS Genet 10(2):e1004083. doi: 10.1371/journal.pgen.1004083. 2014
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight M, Beales PL.
Hum Mol Genet 22(19):3858-68. doi: 10.1093/hmg/ddt241. Epub 2013 May 27. 2013
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q.
Nature 502(7470):254-7. doi: 10.1038/nature12606. Epub 2013 Oct 2. 2013
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC.
PLoS One 8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 15. 2013
11BBS4, CEP290, CEP72, PCM1
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.
Stowe TR, Wilkinson CJ, Iqbal A, Stearns T.
Mol Biol Cell 23(17):3322-35. doi: 10.1091/mbc.E12-02-0134. 2012
CEP90 is required for the assembly and centrosomal accumulation of centriolar satellites, which is essential for primary cilia formation.
Kim K, Lee K, Rhee K.
PLoS One 7(10):e48196. doi: 10.1371/journal.pone.0048196. Epub 2012 Oct 24. 2012
Exome capture sequencing identifies a novel mutation in BBS4.
Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R.
Mol Vis 17:3529-40. Epub 2011 Dec 30. 2011
14ARL6, BBS1, BBS10, BBS11, BBS12, BBS14, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, CEP290, MKKS, TRIM32, TTC8
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS.
J Med Genet 47(4):236-41. Epub 2009 Oct 26. 2010
15BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS8
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
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.
J Med Genet 47(4):262-7. Epub 2009 Sep 24.PMID: 19797195 2010
16ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, MKKS, TRIM32, TTC8
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC.
Hum Mol Genet 18(7):1323-31. Epub 2009 Jan 15. 2009
17BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BVS1
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H.
Proc Natl Acad Sci U S A 106(6):1820-5. Epub 2009 Feb 3. 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
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.
Proc Natl Acad Sci U S A 106(33):13921-6. Epub 2009 Jul 31. 2009
19BBS1, BBS2, BBS4
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Shah AS, Farmen SL, Moninger TO, Businga TR, Andrews MP, Bugge K, Searby CC, Nishimura D, Brogden KA, Kline JN, Sheffield VC, Welsh MJ.
Proc Natl Acad Sci U S A 105(9):3380-5. Epub 2008 Feb 25. 2008
20BBS1, BBS12, TRIM32, BBS2, BBS10; ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K.
Proc Natl Acad Sci U S A 105(11):4242-6. Epub 2008 Mar 11. 2008
21BBS1, BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS9
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, Sheffield VC, Slusarski DC.
Hum Mol Genet 17(13):1956-67. Epub 2008 Apr 1. 2008
22BBS4, CEP290, PCM1
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Kim J, Krishnaswami SR, Gleeson JG.
Hum Mol Genet 17(23):3796-805. Epub 2008 Sep 4. 2008
23BBS1, BBS2, BBS4, BBS7
Novel interaction partners of Bardet-Biedl syndrome proteins.
Oeffner F, Moch C, Neundorf A, Hofmann J, Koch M, Grzeschik KH.
Cell Motil Cytoskeleton 65(2):143-55. 2008
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
Kamiya A, Tan PL, Kubo K, Engelhard C, Ishizuka K, Kubo A, Tsukita S, Pulver AE, Nakajima K, Cascella NG, Katsanis N, Sawa A.
Arch Gen Psychiatry 65(9):996-1006. 2008
25BBS1, BBS10, BBS11, BBS12, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS9
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK.
Cell 129(6):1201-13. 2007
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N.
Nature 439(7074):326-30. Epub 2005 Dec 4. 2006
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC.
Hum Mol Genet 15(5):667-77. Epub 2006 Jan 6. 2006
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.
Iannaccone A, Mykytyn K, Persico AM, Searby CC, Baldi A, Jablonski MM, Sheffield VC.
Am J Med Genet A 132(4):343-6. 2005
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R.
Hum Mol Genet 14(5):627-37. Epub 2005 Jan 13. 2005
30BBS2, BBS1, BBS4, BBS6, BBS7, BBS8
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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.
Eur J Hum Genet 13(5):607-16. 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
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.
Nat Genet 37(10):1135-40. Epub 2005 Sep 18. 2005
32BBS8, BBS7, BBS6, BBS5, BBS4, BBS3, BBS2, BBS1, TTC8
The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N.
Hum Mol Genet 13 Spec No 1:R65-71. Epub 2004 Feb 19. 2004
33BBS4, PCM1
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL.
Nat Genet 36(5):462-70. Epub 2004 Apr 25. 2004
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC.
Proc Natl Acad Sci U S A 101(23):8664-9. Epub 2004 Jun 01. 2004
35BBS1, BBS4
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N.
Nat Genet 36(9):994-8. Epub 2004 Aug 22. 2004
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y.
DNA Seq 15(3):213-8. 2004
37BBS1, BBS2, BBS4, BBS6, BBS7
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.
Am J Hum Genet 72(5):1187-99. Epub 2003 Apr 03. 2003
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
Johnson CA, Gissen P, Sergi C.
J Med Genet 40(5):311-9. Review. 2003
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR.
Am J Hum Genet 71(1):22-9. 2002
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.
Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR.
Am J Hum Genet 68(3):606-16. 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC.
Nat Genet 28(2):188-91. 2001
Exploring the molecular basis of Bardet-Biedl syndrome.
Katsanis N, Lupski JR, Beales PL.
Hum Mol Genet 10(20):2293-9. 2001
43BBS1, BBS2, BBS3, BBS4, BBS5
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population : evidence for a fifth locus.
Woods MO, et al.
Genomics 55 : 2-9. 1999
44BBS1, BBS2, BBS4
Bardet-Biedl syndrome : a molecular and phenotypic study of 18 families.
Beales PL, et al.
J Med Genet 34 : 92-98. 1997
45BBS1, BBS2, BBS4
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
Bruford EA, et al.
Genomics 41 : 93-99. 1997
46BBS2, BBS3, BBS4
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
Carmi R, et al.
Am J Med Genet 59 : 199-203. 1995
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
Carmi R, et al.
Hum Mol Genet 4 : 9-13. 1995