| 1 | BBS11, LGMD2H, TRIM32
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| The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
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| Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ.
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| Hum Mol Genet 20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.
2011
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| 2 | 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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| 3 | BBS10, BBS11, BBS12, BBS13, BBS13, CEP290, MKS1, TRIM32
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| Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
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| Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H.
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| Hum Genet 127(5):583-93. Epub 2010 Feb 23. 2010
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| 4 | BBS11, DBNDD1, LGMD2H, TRIM32
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| TRIM32 is an E3 ubiquitin ligase for dysbindin.
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| Locke M, Tinsley CL, Benson MA, Blake DJ.
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| Hum Mol Genet 18(13):2344-58. Epub 2009 Apr 6. 2009
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | TRIM32, BBS11
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| Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
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| Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC.
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| Proc Natl Acad Sci U S A 103(16):6287-92. Epub 2006 Apr 10. 2006
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