| 1 | MYO5A, RPGRIP1L
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| The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.
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| Assis LH, Silva-Junior RM, Dolce LG, Alborghetti MR, Honorato RV, Nascimento AF, Melo-Hanchuk TD, Trindade DM, Tonoli CC, Santos CT, Oliveira PS, Larson RE, Kobarg J, Espreafico EM, Giuseppe PO, Murakami MT.
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| Sci Rep 7:43692. doi: 10.1038/srep43692.
2017
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| 2 | RPGRIP1L
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| Hypomorphism of Fto and Rpgrip1l causes obesity in mice.
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| Stratigopoulos G, Burnett LC, Rausch R, Gill R, Penn DB, Skowronski AA, LeDuc CA, Lanzano AJ, Zhang P, Storm DR, Egli D, Leibel RL.
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| J Clin Invest 126(5):1897-910. doi: 10.1172/JCI85526.
2016
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| 3 | PSMD2, RPGRIP1L
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| The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium.
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| Gerhardt C, Lier JM, Burmühl S, Struchtrup A, Deutschmann K, Vetter M, Leu T, Reeg S, Grune T, Rüther U.
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| J Cell Biol 210(1):115-33. doi: 10.1083/jcb.201408060.
2015
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| 4 | RPGRIP1L
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| The ciliopathy gene Rpgrip1l is essential for hair follicle development.
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| Chen J, Laclef C, Moncayo A, Snedecor ER, Yang N, Li L, Takemaru K, Paus R, Schneider-Maunoury S, Clark RA.
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| J Invest Dermatol 135(3):701-9. doi: 10.1038/jid.2014.483.
2015
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| 5 | RPGRIP1L
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| Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
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| Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL.
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| Cell Metab 19(5):767-79. doi: 10.1016/j.cmet.2014.04.009.
2014
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| 6 | RPGRIP1L
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| The ciliary protein Ftm is required for ventricular wall and septal development.
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| Gerhardt C, Lier JM, Kuschel S, Rüther U.
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| PLoS One 8(2):e57545. doi: 10.1371/journal.pone.0057545.
2013
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| 7 | RPGRIP1L
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| Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
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| Mahuzier A, Gaudé HM, Grampa V, Anselme I, Silbermann F, Leroux-Berger M, Delacour D, Ezan J, Montcouquiol M, Saunier S, Schneider-Maunoury S, Vesque C.
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| J Cell Biol 198(5):927-40. doi: 10.1083/jcb.201111009.
2012
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| 8 | RPGRIP1L
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| Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia.
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| Woo J, Lee C.
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| Gene 499(1):160-2. doi: 10.1016/j.gene.2012.03.010.
2012
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| 9 | CUX1, FTO, RPGRIP1L
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| Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.
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| Stratigopoulos G, LeDuc CA, Cremona ML, Chung WK, Leibel RL.
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| J Biol Chem 286(3):2155-70. Epub 2010 Oct 31.
2011
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| 10 | 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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| 11 | CROCC, NEK4, RPGRIP1, RPGRIP1L
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| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
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| Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R.
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| Hum Mol Genet 20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17.
2011
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| 12 | CC2D2A, COACH1, COACH2, COACH3, RPGRIP1L, TMEM67
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| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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| 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.
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| J Med Genet 47(1):8-21. Epub 2009 Jul 1. 2010
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| 13 | RPGRIP1L
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| A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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| 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.
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| Nat Genet at Genet. 2009 May 10. [Epub ahead of print]
2009
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| 14 | RPGRIP1L, TBXA2R
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| Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor.
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| Tokue S, Sasaki M, Nakahata N.
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| Prostaglandins Other Lipid Mediat 89(1-2):8-15. Epub 2009 Feb 13.PMID: 19464661 2009
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| 15 | JBTS7, RPGRIP1L
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| RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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| 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.
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| Clin Genet 74(2):164-70. Epub 2008 Jun 28.
2008
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| 16 | CEP290, IQCB1, RPGRIP1L
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| Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
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| Schäfer T, Pütz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G.
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| Hum Mol Genet 17(23):3655-62. Epub 2008 Aug 23.
2008
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| 17 | CORS3, JBTS7, MKS5, NPHP8, RPGRIP1L
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| Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
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| Devuyst O, Arnould VJ.
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| Nephrol Dial Transplant 23(5):1500-3. Epub 2008 Feb 14. Review. No abstract available.
2008
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| 18 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
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| Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.
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| Nat Genet 39(7):882-8. Epub 2007 Jun 10. 2007
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| 19 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
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| 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, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S.
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| Nat Genet 39(7):875-81. Epub 2007 Jun 10. 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 | JBTS7, NPHP8, RPGRIP1L
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| Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
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| 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.
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| Kidney Int 72(12):1520-6. Epub 2007 Oct 24.PMID: 17960139 2007
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