PubMed (cited) for id: 610937

Year	Number of Results
1999	1
2007	3
2008	1
2009	2
2010	1
2011	1
2015	1
2024	0

1

The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

Laclef C, Anselme I, Besse L, Catala M, Palmyre A, Baas D, Paschaki M, Pedraza M, Métin C, Durand B, Schneider-Maunoury S. Laclef C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4997-5014. doi: 10.1093/hmg/ddv221. Epub 2015 Jun 12. Hum Mol Genet. 2015. PMID: 26071364

2

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. Williams CL, et al. J Cell Biol. 2011 Mar 21;192(6):1023-41. doi: 10.1083/jcb.201012116. J Cell Biol. 2011. PMID: 21422230 Free PMC article.

3

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. Doherty D, et al. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.

4

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. Khanna H, et al. Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10. Nat Genet. 2009. PMID: 19430481 Free PMC article.

5

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

6

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free article.

7

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409

8

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R. Arts HH, et al. Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558407

9

Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. Nagase T, et al. DNA Res. 1999 Feb 26;6(1):63-70. doi: 10.1093/dnares/6.1.63. DNA Res. 1999. PMID: 10231032 Free article.

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