| 1 | GPR143, PMEL
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| Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
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| Falletta P, Bagnato P, Bono M, Monticone M, Schiaffino MV, Bennett DC, Goding CR, Tacchetti C, Valetti C.
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| Pigment Cell Melanoma Res 27(4):565-79. doi: 10.1111/pcmr.12239. Epub 2014 Apr 11.
2014
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| 2 | GPR143
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| A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
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| Hu J, Liang D, Xue J, Liu J, Wu L.
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| Mol Vis. 17:715-22. 2011
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| 3 | GPR143
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| The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
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| Giordano F, Simoes S, Raposo G.
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| Proc Natl Acad Sci U S A 108(29):11906-11. Epub 2011 Jul 5.
2011
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| 4 | GPR143, OA1
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| Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
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| Xiao X, Zhang Q.
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| Am J Med Genet A 149A(8):1786-8.PMID: 19610097 2009
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| 5 | GPR143, OA1
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| Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
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| Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S.
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| Eur J Ophthalmol 19(1):124-8.PMID: 19123159 2009
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| 6 | GPR143, MLANA, PMEL
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| The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
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| Giordano F, Bonetti C, Surace EM, Marigo V, Raposo G.
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| Hum Mol Genet 18(23):4530-45. Epub 2009 Aug 28.PMID: 19717472 2009
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| 7 | GPR143, NYS6
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| A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
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| Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, Huang S.
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| Mol Vis 15:810-4. Epub 2009 Apr 22.PMID: 19390656 2009
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| 8 | GPR143
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| The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
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| Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV.
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| Hum Mol Genet 17(22):3487-501. Epub 2008 Aug 12.
2008
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| 9 | GPR143
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| L-DOPA is an endogenous ligand for OA1.
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| Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS.
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| PLoS Biol 6(9):e236.PMID: 18828673 2008
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| 10 | GPR143, NYS6
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| Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.
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| Zhou P, Wang Z, Zhang J, Hu L, Kong X.
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| Mol Vis 14:1015-9.
2008
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| 11 | GPR143,NYS6
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| Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
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| Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK.
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| J Hum Genet 52(6):565-570. Epub 2007 May 22. 2007
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| 12 | GPR143, OA1
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| New mutations identified in the ocular albinism type 1 gene.
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| Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M.
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| Gene 402(1-2):20-7. Epub 2007 Aug 1. 2007
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| 13 | GPR143
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| The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.
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| Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV.
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| Pigment Cell Res 19(2):125-35.PMID: 16524428 2006
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| 14 | GPR143
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| An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.
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| Piccirillo R, Palmisano I, Innamorati G, Bagnato P, Altimare D, Schiaffino MV.
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| J Cell Sci. 119(Pt 10):2003-14. 2006
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| 15 | OA1, GPR143
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| The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.
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| Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V.
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| Invest Ophthalmol Vis Sci 46(12):4358-64. 2005
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| 16 | MITF, GPR143
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| The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
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| Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V.
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| Mol Cell Biol 24(15):6550-9. 2004
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| 17 | GPR143
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| Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
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| Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV.
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| Hum Genet 108(1):51-4. 2001
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| 18 | GPR143
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| Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
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| d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV.
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| Hum Mol Genet 9(20):3011-8. 2000
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| 19 | GPR143
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| Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
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| Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A.
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| Hum Mol Genet. 9(19):2781-8. 2000
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| 20 | GPR143,OASD,TBL1X
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| X-Linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
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| Bassi MT, et al.
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| Am J Hum Genet 64(6):1604-16. 1999
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| 21 | GPR143
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| Ocular albinism: evidence for a defect in an intracellular signal transduction system.
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| Schiaffino MV, et al.
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| Nat Genet 23(1):108-12 1999
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| 22 | GPR143,OA1
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| OA1 mutations and deletions in X-linked ocular albinism.
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| Schnur RE, et al.
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| Am J Hum Genet 62 : 800-809. 1998
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| 23 | GPR143
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| The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
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| Schiaffino MV, et al.
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| Proc Natl Acad Sci U S A 93 : 9055-9060. 1996
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| 24 | GPR143,OA1
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| Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene : sequence, genomic structure, and expression analysis in pigment cells.
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| Bassi MT, et al.
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| Genome Res 6 : 880-885. 1996
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| 25 | GPR143,OA1
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| Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
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| Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al.
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| Hum Mol Genet 4 : 2319-2325. 1995
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| 26 | GPR143
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| Cloning of the gene for ocular albinism type I from the distal short arm of the X chromosome.
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| Bassi MT, et al.
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| Nat Genet 10 : 13-19. 1995
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| 27 | GPR143,OA1
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| A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
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| Bassi MT, et al.
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| Hum Mol Genet 3 : 647-648. 1994
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| 28 | GPR143,MLS
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| A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs : 1.6 Mb of overlapping cosmids in Xp22.
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| Wapenaar MC, et al.
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| Hum Mol Genet 3 : 1155-1161. 1994
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| 29 | GPR143,OA1
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| Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes.
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| Schnur RE, et al.
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| Am J Hum Genet 55 : 484-496. 1994
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| 30 | GPR143,OA1
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| Refinement of the localization of the X-linked ocular albinism gene.
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| Bergen AAB, et al.
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| Genomics 16 : 272-273. 1993
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| 31 | GPR143,OA1
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| Genetic mapping of X-linked ocular albinism : linkage analysis in a large newfoundland kindred.
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| Charles SJ, et al.
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| Genomics 16 : 259-261. 1993
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| 32 | GPR143
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| Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region.
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| Schnur RE, et al.
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| Genomics 15 : 500-506. 1993
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| 33 | GPR143,OA1
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| Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.
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| Bouloux PMG, et al.
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| Clin Genet 43 : 169-173. 1993
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| 34 | GPR143,MLS
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| The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS) : cloning and characterization of the critical regions.
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| Wapenaar MC, et al.
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| Hum Mol Genet 2 : 947-952. 1993
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| 35 | GPR143,OA1
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| Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders : implications for the mapping of X linked ocular albinism.
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| Meindl A, et al.
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| J Med Genet 30 : 838-842. 1993
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| 36 | GPR143,OA1
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| Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
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| Bergen AAB, et al.
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| Clin Genet 41 : 135-138. 1992
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| 37 | GPR143
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| Genetic mapping of X linked ocular albinism : linkage analysis in British families.
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| Charles SJ, et al.
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| J Med Genet 29 : 552-554. 1992
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| 38 | GPR143,OA1
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| Ocular albinism in a large Newfoundland kinship : clinical update and genetic linkage analysis.
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| Luscombe SJ, et al.
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| Am J Hum Genet 51 : A101. 1992
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| 39 | GPR143,OA1
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| Genetic linkage analysis in X-linked albinism.
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| Bergen AA, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2058. 1991
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| 40 | GPR143,OA1
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| Linkage analysis of X-linked ocular albinism (OA1).
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| Zhu D, et al.
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| Am J Hum Genet 49S : 364. 1991
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| 41 | GPR143
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| Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
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| Bergen AAB, et al.
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| Hum Genet 88 : 162-166. 1991
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| 42 | GPR143,OA1
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| Linkage analysis in X-linked ocular albinism.
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| Schnur RE, et al.
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| Genomics 9 : 605-613. 1991
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| 43 | GPR143,OA1
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| Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
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| Bergen AAB, et al.
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| Ophthalmic Paediatr Genet 2 : 165-170. 1990
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| 44 | DELXPM,GPR143
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| Xp22.3 microdeletions associated with 1) ocular albinism + ichthyosis and 2) nystagmus + Rud syndrome : approximation of breakpoints, estimation of deletion size, and deletion analysis by PFGE.
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| Schnur RE, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1074-1075. 1989
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| 45 | GPR143,OA1
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| Genetic analysis in X-linked ocular albinism.
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| de Martinville B, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 605. 1987
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| 46 | GPR143,OA1
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| Clinical findings and linkage analysis in X-linked ocular albinism.
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| Graham JM, et al.
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| Am J Hum Genet 41 : A64. 1987
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| 47 | GPR143
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| Blood groups in man.
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| Race RR, et al.
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| Blackwell Scientific Publications. Oxford. 1975
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