| 1 | MKS1
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| The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
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| Goetz SC, Bangs F, Barrington CL, Katsanis N, Anderson KV.
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| PLoS One 12(3):e0173399. doi: 10.1371/journal.pone.0173399. eCollection 2017.
2017
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| 2 | JBTS28, MKS1
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| MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
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| Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.
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| Eur J Med Genet 59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Review.
2016
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| 3 | JBTS28, MKS1
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| Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
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| Irfanullah, Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W.
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| Am J Med Genet A 170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29.
2016
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| 4 | ARL13B, INPP5E, MKS1
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| MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
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| Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.
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| J Med Genet 53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.
2016
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| 5 | B9D1, MKS1, TMEM231
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| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
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| Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF.
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| J Cell Biol 209(1):129-42. doi: 10.1083/jcb.201411087.
2015
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| 6 | B9D1, JBTS27, JBTS28, MKS1
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| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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| Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
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| Orphanet J Rare Dis 9:72. doi: 10.1186/1750-1172-9-72.
2014
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| 7 | 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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| 8 | B9D1, B9D2, CC2D2A, MKS1, NPHP1, NPHP4, RPGRIP1L, TMEM67
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| MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
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| Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.
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| J Cell Biol 192(6):1023-41. 2011
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| 9 | ATXN10, IQCB1, JBTS24, MKS1, NPHP17, TCTN2
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| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
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| Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.
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| Cell 145(4):513-28. 2011
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| 10 | MKS1
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| Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.
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| Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW.
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| Dis Model Mech 4(1):43-56. doi: 10.1242/dmm.006262. Epub 2010 Nov 2.
2011
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| 11 | 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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| 12 | MKS1, TMEM67
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| Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
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| Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH 2nd, Harris PC.
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| Hum Mol Genet 18(17):3311-23. Epub 2009 Jun 10.PMID: 19515853 2009
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| 13 | MKS1
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| A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.
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| Weatherbee SD, Niswander LA, Anderson KV.
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| Hum Mol Genet 18(23):4565-75. Epub 2009 Sep 22.PMID: 19776033 2009
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| 14 | B9D1, B9D2, MKS1
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| Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
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| Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby LM, Katsanis N, Leroux MR.
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| J Cell Sci 122(Pt 5):611-24. Epub 2009 Feb 10.PMID: 19208769 2009
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| 15 | CEP290, MKS1, MKS4, TMEM67
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| An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.
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| Li C, Inglis PN, Leitch CC, Efimenko E, Zaghloul NA, Mok CA, Davis EE, Bialas NJ, Healey MP, HŽon E, Zhen M, Swoboda P, Katsanis N, Leroux MR.
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| PLoS Genet 4(3):e1000044. 2008
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| 16 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 17 | B9D1, B9D2, MKS1
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| Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
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| Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ, Yoder BK.
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| Mol Biol Cell 19(5):2154-68. Epub 2008 Mar 12.
2008
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| 18 | MKS1, TMEM67
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| The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
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| Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA.
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| Hum Mol Genet 16(2):173-86. Epub 2006 Dec 21. 2007
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| 19 | MKS1, TMEM67
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| Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
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| Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC.
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| Hum Genet 121(5):591-9. Epub 2007 Mar 22. 2007
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| 20 | CEP290, MKS1, MKS2, MKS3, MKS4, MKS5, RPGRIP1L, TMEM67
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| Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
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| Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.
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| Am J Med Genet A 143(15):1715-25. 2007
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| 21 | MKS1
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| A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.
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| Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H.
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| Clin Genet 72(5):454-9. 2007
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| 22 | MKS1
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| Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
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| Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C.
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| Hum Mutat 28(6):638-9.PMID: 17437276 2007
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| 23 | MKS1
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| MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
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| Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M.
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| Nat Genet 38(2):155-7. Epub 2006 Jan 15. 2006
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| 24 | MKS1, MKS2, MKS3
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| The beat goes on: ciliary proteins are defective in Meckel syndrome.
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| Gibson WT.
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| Clin Genet 69(5):400-1. No abstract available. 2006
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| 25 | BBS, MKS1, MKS2, MKS3
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| Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
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| Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attie-Bitach T.
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| Am J Hum Genet 76(3):493-504. Epub 2005 Jan 21. 2005
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| 26 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 27 | MKS1, TRIM37, RAD51C
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| High-resolution physical and genetic mapping of the critical region for meckel syndrome and mulibrey nanism on chromosome 17q22-q23.
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| Paavola P, et al.
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| Genome Res 9(3):267-76. 1999
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| 28 | MKS1
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| Meckel syndrome.
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| Salonen R, et al.
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| J Med Genet 35 : 497-501. 1998
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| 29 | MKS1
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| Clinical and genetic heterogeneity in Meckel syndrome.
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| Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L.
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| Hum Genet 101(1):88-92. 1997
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| 30 | MKS1
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| Genetic heterogeneity of Meckel syndrome.
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| Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A.
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| J Med Genet 34(12):1003-6. 1997
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| 31 | MKS1
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| The locus for Meckel syndrome with multiple congenital anomalies maps tochromosome 17q21-q24.
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| Paavola P, et al.
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| Nat Genet 11 : 213-215. 1995
|