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Items: 1 to 20 of 52

1.

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.

2.

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
3.

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.

4.

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.

5.

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.

6.

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
7.

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
8.

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
9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

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.

16.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J, Liang D, Xue J, Liu J, Wu L.

Mol Vis. 2011 Mar 12;17:715-22.

17.

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Ohtsubo M, Sato M, Hikoya A, Hosono K, Minoshima S, Hotta Y.

Jpn J Ophthalmol. 2010 Nov;54(6):624-6. No abstract available.

PMID:
21348135
18.

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM.

Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar.

19.

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

Martinez-Garcia M, Riveiro-Alvarez R, Villaverde-Montero C, Cantalapiedra D, Garcia-Sandoval B, Ayuso C, Trujillo-Tiebas MJ.

Clin Exp Ophthalmol. 2010 Jul;38(5):489-95. doi: 10.1111/j.1442-9071.2010.02282.x.

PMID:
20649618
20.

Ocular Albinism, X-Linked.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Mar 12 [updated 2015 Nov 19].

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