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Select item 107842121.

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China

Jingling Xu, Yihan Zheng, Lulu Cheng, Huihui Sun, Xinping Yu, Feng Gu, E Song

Mol Vis. 2023; 29: 234–244. Published online 2023 Nov 1.

PMCID:: PMC10784212

Article PDF–845K

Select item 80111302.

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia

Xiying Mao, Mingkang Chen, Yan Yu, Qinghuai Liu, Songtao Yuan, Wen Fan

BMC Ophthalmol. 2021; 21: 156. Published online 2021 Mar 30. doi: 10.1186/s12886-021-01905-7

PMCID:: PMC8011130

Article PDF–4.0M

Select item 68963093.

A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1

Xuhui Gao, Tiecheng Liu, Xuan Cheng, Aiai Dai, Wei Liu, Runpu Li, Maonian Zhang

Mol Med Rep. 2020 Jan; 21(1): 240–248. Published online 2019 Nov 12. doi: 10.3892/mmr.2019.10813

PMCID:: PMC6896309

Article PDF–1.2M

Select item 54822434.

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

Elisabetta De Filippo, Prashiela Manga, Anke C. Schiedel

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

PMCID:: PMC5482243

Article PDF–1.0M

Select item 54289035.

GPR143 mutations in Chinese patients with ocular albinism type 1

Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo

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

PMCID:: PMC5428903

Article PDF–1.5M

Select item 53143546.

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui

Sci Rep. 2017; 7: 33713. Published online 2017 Feb 17. doi: 10.1038/srep33713

PMCID:: PMC5314354

Article PDF–1.3M

Select item 52009827.

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

Jing Liu, Yanlei Jia, Lejin Wang, Juan Bu

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

PMCID:: PMC5200982

Article PDF–1.0M

Select item 49610558.

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

Winston Lee, Kaspar Schuerch, Yajing Xie, Jana Zernant, Stephen H. Tsang, Janet R. Sparrow, Rando Allikmets

Invest Ophthalmol Vis Sci. 2016 Jun; 57(7): 3409–3415. Published online 2016 Jun 28. doi: 10.1167/iovs.16-19621

PMCID:: PMC4961055

Article PDF–1.3M

Select item 46506669.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

Takuya Naruto, Nobuhiko Okamoto, Kiyoshi Masuda, Takao Endo, Yoshikazu Hatsukawa, Tomohiro Kohmoto, Issei Imoto

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

PMCID:: PMC4650666

Article PDF–1.1M

Select item 449822010.

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

Ruifang Han, Xiaojuan Wang, Dongjie Wang, Liming Wang, Zhongfang Yuan, Ming Ying, Ningdong Li

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

PMCID:: PMC4498220

Article PDF–1.3M

Select item 342342111.

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan, Xuan Liao, Su-ping Cai, Changjun Lan, Yun Wang, Xiaomin Zhou, Yan Yin, Wenhan Yu, Xuyang Liu

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

PMCID:: PMC3423421

Article PDF–408K

Select item 314197112.

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

Francesca Giordano, Sabrina Simoes, Graça Raposo

Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29): 11906–11911. Published online 2011 Jul 5. doi: 10.1073/pnas.1103381108

PMCID:: PMC3141971

Article PDF–1.1M

Select item 306015613.

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

Junjie Hu, Desheng Liang, Jinjie Xue, Jing Liu, Lingqian Wu

Mol Vis. 2011; 17: 715–722. Published online 2011 Mar 12.

PMCID:: PMC3060156

Article PDF–2.6M

Select item 267158514.

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

Yuanyuan Peng, Yan Meng, Zheng Wang, Mei Qin, Xiaoqiao Li, Yan Dian, Shangzhi Huang

Mol Vis. 2009; 15: 810–814. Published online 2009 Apr 22.

PMCID:: PMC2671585

Article PDF–1.7M

Select item 257648215.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

Shaohua Fang, Xiangming Guo, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Qingjiong Zhang

Mol Vis. 2008; 14: 1974–1982. Published online 2008 Oct 30.

PMCID:: PMC2576482

Article PDF–7.5M

Select item 240877416.

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus

Pingtong Zhou, Zhiqiang Wang, Jing Zhang, Landian Hu, Xiangyin Kong

Mol Vis. 2008; 14: 1015–1019. Published online 2008 May 30.

PMCID:: PMC2408774

Article PDF–1.4M

Select item 224174117.

Normal Tissue Depresses While Tumor Tissue Enhances Human T Cell Responses In Vivo to a Novel Self/Tumor Melanoma Antigen, OA1

Christopher E. Touloukian, Wolfgang W. Leitner, Rhonda E. Schnur, Paul F. Robbins, Yong Li, Scott Southwood, Alessandro Sette, Steven A. Rosenberg, Nicholas P. Restifo

J Immunol. Author manuscript; available in PMC 2008 Feb 13.

Published in final edited form as: J Immunol. 2003 Feb 1; 170(3): 1579–1585. doi: 10.4049/jimmunol.170.3.1579

PMCID:: PMC2241741

Article PDF–677K

Select item 168343518.

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

R E Schnur, B J Trask, G van den Engh, H H Punnett, M Kistenmacher, M A Tomeo, R E Naids, R L Nussbaum

Am J Hum Genet. 1989 Nov; 45(5): 706–720.

PMCID:: PMC1683435

Summary Page Browse PDF–2.4M

Select item 146839619.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan, Jean-Louis Dufier, Cécile Marsac, Maurice Menasche, Marc Abitbol

BMC Med Genet. 2006; 7: 41. Published online 2006 Apr 28. doi: 10.1186/1471-2350-7-41

PMCID:: PMC1468396

Article PDF–875K

Select item 101656620.

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

A Meindl, D Hosenfeld, W Brückl, S Schuffenhauer, J Jenderny, A Bacskulin, H C Oppermann, O Swensson, P Bouloux, T Meitinger

J Med Genet. 1993 Oct; 30(10): 838–842. doi: 10.1136/jmg.30.10.838

PMCID:: PMC1016566

Summary Page Browse PDF–1.3M

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