Huang L, Szymanska K, Jensen Victor L, Janecke Andreas R, Innes AM, Davis Erica E, Frosk P, Li C, Willer Jason R, Chodirker Bernard N, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, et al: TMEM237 is mutated in individuals with a Joubert Syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet. 2011, 89: 713-730. 10.1016/j.ajhg.2011.11.005.
Article
PubMed Central
CAS
PubMed
Google Scholar
Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR: MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol. 2011, 192: 1023-1041. 10.1083/jcb.201012116.
Article
PubMed Central
CAS
PubMed
Google Scholar
Sang L, Miller Julie J, Corbit Kevin C, Giles Rachel H, Brauer Matthew J, Otto Edgar A, Baye Lisa M, Wen X, Scales Suzie J, 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, et al: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011, 145: 513-528. 10.1016/j.cell.2011.04.019.
Article
PubMed Central
CAS
PubMed
Google Scholar
Li A, Saito M, Chuang J-Z, Tseng Y-Y, Dedesma C, Tomizawa K, Kaitsuka T, Sung C-H: Ciliary transition zone activation of phosphorylated Tctex-1 controls ciliary resorption, S-phase entry and fate of neural progenitors. Nat Cell Biol. 2011, 13: 402-411. 10.1038/ncb2218.
Article
PubMed Central
CAS
PubMed
Google Scholar
Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF: A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011, 43: 776-784. 10.1038/ng.891.
Article
PubMed Central
CAS
PubMed
Google Scholar
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, 2nd Gattone VH, Harris PC, et al: The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006, 38: 191-196. 10.1038/ng1713.
Article
CAS
PubMed
Google Scholar
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA: Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010, 47: 8-21. 10.1136/jmg.2009.067249.
Article
PubMed Central
CAS
PubMed
Google Scholar
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D’Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, International JSRD, Dallapiccola B, Gleeson JG, Study Group, et al: Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies. Hum Mutat. 2010, 31: E1319-E1331.
PubMed Central
CAS
PubMed
Google Scholar
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d’Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, et al: Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Hum Mutat. 2007, 28: 523-524.
Article
PubMed
Google Scholar
Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 121: 591-599.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group: RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008, 74: 164-170. 10.1111/j.1399-0004.2008.01047.x.
Article
PubMed Central
CAS
PubMed
Google Scholar
Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M: Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008, 82: 1361-1367. 10.1016/j.ajhg.2008.05.004.
Article
PubMed Central
CAS
PubMed
Google Scholar
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, et al: CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat. 2009, 30: 1574-1582. 10.1002/humu.21116.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chen J, Smaoui N, Hammer MBH, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF: Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci. 2011, 52: 5317-5324. 10.1167/iovs.11-7554.
Article
PubMed Central
CAS
PubMed
Google Scholar