| 1 | MKKS, SDCCAG8, SLSN7, SRPS5, WDR35
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| Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
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| Yamamura T, Morisada N, Nozu K, Minamikawa S, Ishimori S, Toyoshima D, Ninchoji T, Yasui M, Taniguchi-Ikeda M, Morioka I, Nakanishi K, Nishio H, Iijima K.
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| Clin Exp Nephrol 21(1):136-142. doi: 10.1007/s10157-016-1256-x. Epub 2016 Mar 11.
2017
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| 2 | BBS10, BBS12, MKKS
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| Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)
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| Álvarez-Satta M, Castro-Sánchez S, Valverde D
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| Front Mol Biosci. Jul 31;4:55. doi: 10.3389/fmolb.2017.00055 2017
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| 3 | KIAA0586, MACF1, MKKS
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| Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.
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| May-Simera HL, Gumerson JD, Gao C, Campos M, Cologna SM, Beyer T, Boldt K, Kaya KD, Patel N, Kretschmer F, Kelley MW, Petralia RS, Davey MG, Li T.
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| Cell Rep 17(5):1399-1413. doi: 10.1016/j.celrep.2016.09.089.
2016
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| 4 | BBS6, MKKS
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| A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
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| Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV.
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| Mol Vis. Jan 24;22:73-81. eCollection 2016 2016
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| 5 | BBS10, BBS12, MKKS
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| Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
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| Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D.
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| J Med Genet. Aug;52(8):503-13. doi: 10.1136/jmedgenet-2015-103099. Epub 2015 Jun 16. 2015
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| 6 | 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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| 7 | CEP290, MKKS
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| Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
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| Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.
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| J Clin Invest. 122(4):1233-45. 2012
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| 8 | BBS10, BBS12, MKKS
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| BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
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| Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC.
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| Proc Natl Acad Sci U S A 107(4):1488-93. Epub 2010 Jan 4.PMID: 20080638 2010
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | BBS6, MKKS
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| MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
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| Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K.
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| Mol Biol Cell 19(3):899-911. Epub 2007 Dec 19.
2008
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| 13 | 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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| 14 | 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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| 15 | MKKS, BBS6
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| MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
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| Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR.
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| J Cell Sci 118(Pt 5):1007-20. 2005
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| 16 | BBS6, MKKS
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| Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
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| Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS.
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| Am J Med Genet A 132(4):352-60.
2005
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| 17 | BBS6, MKKS
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| Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
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| Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG.
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| Hum Genet 110(6):561-7. 2002
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| 18 | BBS2, BBS3, BBS4, BBS5, MKKS
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| 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.
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| Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR.
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| Am J Hum Genet 68(3):606-16. 2001
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| 19 | BBS2, BBS4, MKKS
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| Exploring the molecular basis of Bardet-Biedl syndrome.
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| Katsanis N, Lupski JR, Beales PL.
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| Hum Mol Genet 10(20):2293-9. 2001
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| 20 | MKKS
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| Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
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| Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG.
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| Nat Genet 25(1):79-82. 2000
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| 21 | BBS6, MKKS
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| Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with bardet-biedl syndrome.
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| Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR.
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| Nat Genet 26(1):67-70. No abstract available. 2000
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| 22 | BBS6, MKKS
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| Mutations in MKKS cause bardet-biedl syndrome.
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| Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG.
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| Nat Genet 26(1):15-6. No abstract available. 2000
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| 23 | BIRC3, MKKS
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| Phenotypic overlap of McKusick-kaufman syndrome with bardet-biedl syndrome: A literature review
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| Slavotinek AM, Biesecker LG.
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| Am J Med Genet 95(3):208-15. 2000
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| 24 | MKKS
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| Genetic and physical mapping of the McKusick-Kaufman syndrome.
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| Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG.
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| Hum Mol Genet 7(3):475-81. 1998
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