Citations for
1TMEM67
Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways.
Du E, Li H, Jin S, Hu X, Qiu M, Han R.
Cell Biol Int 37(7):694-702. doi: 10.1002/cbin.10081. Epub 2013 Apr 16. 2013
2MKS3, TMEM67
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.
Hum Mol Genet 22(10):2024-40. doi: 10.1093/hmg/ddt054. Epub 2013 Feb 7. 2013
3FLNA, TMEM67
A meckelin-filamin A interaction mediates ciliogenesis.
Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA.
Hum Mol Genet 21(6):1272-86. doi: 10.1093/hmg/ddr557. Epub 2011 Nov 25. 2012
4MKS3, TMEM67
Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.
Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK.
Invest Ophthalmol Vis Sci 53(2):967-74. doi: 10.1167/iovs.11-8766. Print 2012 Feb. 2012
5ARL13B, CC2D2A, CEP290, GLIS2, INPP5E, INVS, NEK8, NPHP2, NPHP4, TMEM67, TTC21B, XPNPEP3
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.
J Med Genet 48(2):105-16. Epub 2010 Nov 10. 2011
6B9D1, B9D2, CC2D2A, MKS1, NPHP1, NPHP4, RPGRIP1L, TMEM67
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.
J Cell Biol 192(6):1023-41. 2011
7JBTS2, MKS2, TMEM216, TMEM67
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.
Nat Genet 42(7):619-25. Epub 2010 May 30.PMID: 20512146 2010
8CC2D2A, COACH1, COACH2, COACH3, RPGRIP1L, TMEM67
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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.
J Med Genet 47(1):8-21. Epub 2009 Jul 1. 2010
9MKS1, TMEM67
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH 2nd, Harris PC.
Hum Mol Genet 18(17):3311-23. Epub 2009 Jun 10.PMID: 19515853 2009
10NPHP11, TMEM67
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.
J Med Genet 46(10):663-70. Epub 2009 Jun 8.PMID: 19508969 2009
11SFTPC, TMEM67, VCP
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.
Wang M, Bridges JP, Na CL, Xu Y, Weaver TE.
J Biol Chem 284(48):33377-83. doi: 10.1074/jbc.M109.034371. Epub 2009 Oct 8. 2009
12CEP290, MKS1, MKS4, TMEM67
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.
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.
PLoS Genet 4(3):e1000044. 2008
13JBTS6, TMEM67
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T.
Am J Hum Genet 80(1):186-94. Epub 2006 Nov 15. 2007
14MKS1, TMEM67
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
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.
Hum Mol Genet 16(2):173-86. Epub 2006 Dec 21. 2007
15AHI1, CEP290, J BTS3, JBTS1, JBTS2, JBTS5, JBTS6, MKS3, NPHP1, TMEM67
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA, Doherty D, Chance PF, Glass IA.
Eur J Hum Genet 15(5):511-21. Epub 2007 Mar 21. 2007
16MKS1, TMEM67
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC.
Hum Genet 121(5):591-9. Epub 2007 Mar 22. 2007
17CEP290, MKS1, MKS2, MKS3, MKS4, MKS5, RPGRIP1L, TMEM67
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
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.
Am J Med Genet A 143(15):1715-25. 2007
18MKS3, TMEM67
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
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, Gattone VH, Harris PC, Johnson CA.
Nat Genet 38(2):191-6. Epub 2006 Jan 15. 2006