Citations for
1ARL6, 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
2BBS1, 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
3ARL6, 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
4BBS10, 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
5BBS4, BBS5, BBS7, RET
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
6BBS1, 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
7BBS1, 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
8BBS1, 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
9BBS4, 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
10BBS1, 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
11BBS4, DISC1, PCM1
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
12BBS1, 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
13CCDC28B, BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9
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
14BBS1, BBS2, BBS4, BBS5, MKKS, BBS7, TTC8
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
15BBS4
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
16BBS4, MAGEL2, NDN, PWS
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
17BBS2, 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
18ALMS1, APC, BBS4, DISC1, OFD1, PAFAH1B1, PARK21, SPG4
BBS4 interacts with PCM1.
Stein R.
Clin Genet 68(2):113-114. No abstract available. 2005
19BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8
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
20BBS8, 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
21BBS4, 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
22BBS4
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
23BBS1, 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
24BBS1, 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
25ARPKD, BBS2, BBS4, BBS6, JATD1, MKS3, NPHP4
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
Johnson CA, Gissen P, Sergi C.
J Med Genet 40(5):311-9. Review. 2003
26BBS4
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
27BBS2, BBS3, BBS4, BBS5, MKKS
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
28BBS4
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
29BBS2, BBS4, MKKS
Exploring the molecular basis of Bardet-Biedl syndrome.
Katsanis N, Lupski JR, Beales PL.
Hum Mol Genet 10(20):2293-9. 2001
30BBS1, 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
31BBS1, BBS2, BBS4
Bardet-Biedl syndrome : a molecular and phenotypic study of 18 families.
Beales PL, et al.
J Med Genet 34 : 92-98. 1997
32BBS1, 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
33BBS2, 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
34BBS4
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