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Items: 1 to 20 of 90

1.

Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.

De Filippo E, Manga P, Schiedel AC.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3118-3126. doi: 10.1167/iovs.16-21128.

2.

[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

Zhao Q, Guan M, Wang L, Liao Y, Li-Ling J, Wan H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):224-227. doi: 10.3760/cma.j.issn.1003-9406.2017.02.016. Chinese.

PMID:
28397224
3.

GPR143 mutations in Chinese patients with ocular albinism type 1.

Jia X, Yuan J, Jia X, Ling S, Li S, Guo X.

Mol Med Rep. 2017 May;15(5):3069-3075. doi: 10.3892/mmr.2017.6366. Epub 2017 Mar 23.

4.

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.

Liu J, Jia Y, Wang L, Bu J.

Indian J Ophthalmol. 2016 Nov;64(11):813-817. doi: 10.4103/0301-4738.195593.

5.

Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.

De Filippo E, Schiedel AC, Manga P.

J Invest Dermatol. 2017 Feb;137(2):457-465. doi: 10.1016/j.jid.2016.09.022. Epub 2016 Oct 6.

6.

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Lee W, Schuerch K, Xie Y, Zernant J, Tsang SH, Sparrow JR, Allikmets R.

Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3409-15. doi: 10.1167/iovs.16-19621.

7.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.

Zhao H, Huang XF, Zheng ZL, Deng WL, Lei XL, Xing DJ, Ye L, Xu SZ, Chen J, Zhang F, Yu XP, Jin ZB.

BMJ Open. 2016 Apr 1;6(4):e010649. doi: 10.1136/bmjopen-2015-010649.

8.

Pigmentation and Macular Degeneration: Is There a Role for GPR143?

McKay BS, Schwartz SG.

J Ocul Pharmacol Ther. 2016 Jan-Feb;32(1):3-4. doi: 10.1089/jop.2016.29007.bsm. Epub 2016 Jan 7. No abstract available.

PMID:
26741053
9.

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

Pan Q, Yi C, Xu T, Liu J, Jing X, Hu B, Wang Y.

Acta Ophthalmol. 2016 Jun;94(4):417-8. doi: 10.1111/aos.12854. Epub 2015 Nov 7. No abstract available.

10.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N.

Sci Rep. 2015 Jul 10;5:12031. doi: 10.1038/srep12031.

11.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Naruto T, Okamoto N, Masuda K, Endo T, Hatsukawa Y, Kohmoto T, Imoto I.

Sci Rep. 2015 Jun 10;5:11334. doi: 10.1038/srep11334.

12.

Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway.

Bai J, Xie X, Lei Y, An G, He L, Lv X.

Mol Med Rep. 2014 Jul;10(1):491-5. doi: 10.3892/mmr.2014.2154. Epub 2014 Apr 15.

PMID:
24736838
13.

Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.

Falletta P, Bagnato P, Bono M, Monticone M, Schiaffino MV, Bennett DC, Goding CR, Tacchetti C, Valetti C.

Pigment Cell Melanoma Res. 2014 Jul;27(4):565-79. doi: 10.1111/pcmr.12239. Epub 2014 Apr 11.

PMID:
24650003
14.

Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.

Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G.

Int Ophthalmol. 2014 Oct;34(5):1075-81. doi: 10.1007/s10792-014-9912-1. Epub 2014 Feb 14.

PMID:
24526317
15.

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C, Li WD.

Genet Mol Res. 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16.

16.

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ, Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D, Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT, Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D, Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA, Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D, Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Røder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC, Vincent D, Bacot F, Tessier DC; COGS–Cancer Research UK GWAS–ELLIPSE (part of GAME-ON) Initiative; Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK ProtecT (Prostate testing for cancer and Treatment) Study Collaborators; PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Kote-Jarai Z, Easton DF.

Nat Genet. 2013 Apr;45(4):385-91, 391e1-2. doi: 10.1038/ng.2560.

17.

A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

Yan N, Liao X, Cai SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W, Liu X.

PLoS One. 2012;7(8):e43177. doi: 10.1371/journal.pone.0043177. Epub 2012 Aug 20.

18.

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T.

Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9.

PMID:
22486324
19.

Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.

Young A, Jiang M, Wang Y, Ahmedli NB, Ramirez J, Reese BE, Birnbaumer L, Farber DB.

PLoS One. 2011;6(9):e24376. doi: 10.1371/journal.pone.0024376. Epub 2011 Sep 8.

20.

The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.

Giordano F, Simoes S, Raposo G.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11906-11. doi: 10.1073/pnas.1103381108. Epub 2011 Jul 5.

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