1 | BBS9
|
| Nonsyndromic craniosynostosis: novel coding variants.
|
| Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I.
|
| Pediatr Res 85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14.
2019
|
2 | BBS9
|
| BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.
|
| Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W.
|
| Bone 112:58-70. doi: 10.1016/j.bone.2018.04.013. Epub 2018 Apr 17. Erratum in: Bone. 2019 Apr;121:293.
2018
|
3 | BBS9
|
| Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.
|
| Reiner J, Pisani L, Qiao W, Singh R, Yang Y, Shi L, Khan WA, Sebra R, Cohen N, Babu A, Edelmann L, Jabs EW, Scott SA.
|
| NPJ Genom Med 3:3. doi: 10.1038/s41525-017-0042-3. eCollection 2018.
2018
|
4 | ARL6, BBS1, BBS9
|
| BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.
|
| Nozaki S, Katoh Y, Kobayashi T, Nakayama K.
|
| PLoS One. Mar 28;13(3):e0195005. doi: 10.1371/journal.pone.0195005. eCollection 2018. 2018
|
5 | BBS9
|
| Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
|
| Khan MA, Mohan S, Zubair M, Windpassinger C.
|
| BMC Med Genet 17:10. doi: 10.1186/s12881-016-0271-9.
2016
|
6 | BBS9
|
| Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
|
| Knockenhauer KE, Schwartz TU.
|
| J Biol Chem 290(32):19569-83. doi: 10.1074/jbc.M115.649202. Epub 2015 Jun 17.
2015
|
7 | ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, TTC8, WDPCP
|
| 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
|
8 | BBS2, BBS7, BBS9
|
| Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
|
| Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC.
|
| J Biol Chem 287(24):20625-35. doi: 10.1074/jbc.M112.341487. Epub 2012 Apr 12.
2012
|
9 | BBS9
|
| Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
|
| Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, Sood R, Liu P, Swaroop A.
|
| PLoS One 7(3):e34389. doi: 10.1371/journal.pone.0034389. Epub 2012 Mar 29.
2012
|
10 | BBS9, BMP2
|
| A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
|
| Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.
|
| Nat Genet 44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.
2012
|
11 | ARL6, 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
|
12 | ARL6, 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
|
13 | BBS10, 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
|
14 | BBS1, 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
|
15 | BBS1, 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
|
16 | BBS1, 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
|
17 | CCDC28B, 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
|
18 | BBS9
|
| Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
|
| Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC.
|
| Am J Hum Genet 77(6):1021-33. Epub 2005 Oct 26. 2005
|
19 | BBS9
|
| The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.
|
| Vernon EG, Malik K, Reynolds P, Powlesland R, Dallosso AR, Jackson S, Henthorn K, Green ED, Brown KW.
|
| Oncogene 22(9):1371-80. 2003
|
20 | BBS9
|
| Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.
|
| Adams AE, Rosenblatt M, Suva LJ.
|
| Bone 24(4):305-13. 1999
|