PMC Links for GEO Profiles (Select 108192564) - PMC

Select item 108101491.

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4

Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Anthony G. Robson, Izumi Naka, Jun Ohashi, Hui Li, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kyu Hyung Park, Michel Michaelides, Hisateru Tachimori, Hiroaki Miyata, Ruifang Sui, Se Joon Woo, Kaoru Fujinami, for the East Asia Inherited Retinal Disease Society Study Group

Invest Ophthalmol Vis Sci. 2024 Jan; 65(1): 41. Published online 2024 Jan 24. doi: 10.1167/iovs.65.1.41

PMCID:: PMC10810149

Abstract Article PDF–1.3M

Select item 83641812.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 74014613.

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Dan-Dan Wang, Feng-Juan Gao, Jian-Kang Li, Fang Chen, Fang-Yuan Hu, Ge-Zhi Xu, Jian-Guo Zhang, Hao-Xiang Sun, Sheng-Hai Zhang, Ping Xu, Guo-Hong Tian, Ji-Hong Wu

Invest Ophthalmol Vis Sci. 2020 Mar; 61(3): 10. Published online 2020 Mar 16. doi: 10.1167/iovs.61.3.10

PMCID:: PMC7401461

Abstract Article PDF–4.4M

Select item 59674074.

Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy

Yangfan P. Liu, Daniëlle G.M. Bosch, Anna M. Siemiatkowska, Nanna Dahl Rendtorff, F. Nienke Boonstra, Claes Möller, Lisbeth Tranebjærg, Nicholas Katsanis, Frans P.M. Cremers

Ophthalmic Genet. Author manuscript; available in PMC 2018 May 24.

Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 127–132. Published online 2016 Mar 30. doi: 10.3109/13816810.2016.1151898

PMCID:: PMC5967407

Abstract Article PDF–559K

Select item 43223165.

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, Said El Shamieh, Keiichiro Akeo, Yuko Sugawara, Kunihiko Yamaki, Christina Zeitz, Isabelle Audo, Hiroshi Takahashi

Biomed Res Int. 2015; 2015: 545243. Published online 2015 Jan 29. doi: 10.1155/2015/545243

PMCID:: PMC4322316

Abstract Article PDF–6.3M

Select item 41140736.

Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

Connie J. Chen, Hendrik P. N. Scholl, Neil R. Miller, Morton F. Goldberg, Takeshi Iwata, David G. Birch

Arch Ophthalmol. Author manuscript; available in PMC 2014 Jul 29.

Published in final edited form as: Arch Ophthalmol. 2012 Dec; 130(12): 1554–1559. doi: 10.1001/archophthalmol.2012.2683

Correction in:: volume 131 on page 225

PMCID:: PMC4114073

Abstract Article PDF–495K

Select item 35225877.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29859539.

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Mary Glancy, Angela Barnicoat, Rajan Vijeratnam, Sharon de Souza, Joanne Gilmore, Shuwen Huang, Viv K Maloney, N Simon Thomas, David J Bunyan, Ann Jackson, John C K Barber

Eur J Hum Genet. 2009 Jan; 17(1): 37–43. Published online 2008 Aug 20. doi: 10.1038/ejhg.2008.133

PMCID:: PMC2985953

Abstract Article PDF–307K

Select item 293334110.

Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

Masakazu Akahori, Kazushige Tsunoda, Yozo Miyake, Yoko Fukuda, Hiroyuki Ishiura, Shoji Tsuji, Tomoaki Usui, Tetsuhisa Hatase, Makoto Nakamura, Hisao Ohde, Takeshi Itabashi, Haru Okamoto, Yuichiro Takada, Takeshi Iwata

Am J Hum Genet. 2010 Sep 10; 87(3): 424–429. doi: 10.1016/j.ajhg.2010.08.009

PMCID:: PMC2933341

Abstract Article PDF–563K

Select item 293269911.

Identification of Novel Retinal Target Genes of Thyroid Hormone in the Human WERI Cells by Expression Microarray Analysis

Yan Liu, Li Fu, Ding-Geng Chen, Samir S. Deeb

Vision Res. Author manuscript; available in PMC 2010 Sep 2.

Published in final edited form as: Vision Res. 2007 Aug; 47(17): 2314–2326. Published online 2007 Jul 25. doi: 10.1016/j.visres.2007.04.023

PMCID:: PMC2932699

Abstract Article PDF–1000K

Select item 274832012.

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

Tetsuji Yamashita, Jiewu Liu, Jiangang Gao, Sean LeNoue, Changguan Wang, Jack Kaminoh, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Kang Zhang, Malinda E. C. Fitzgerald, Vladimir J. Kefalov, Jian Zuo

J Neurosci. 2009 Aug 5; 29(31): 9748–9760. doi: 10.1523/JNEUROSCI.5854-08.2009

PMCID:: PMC2748320

Abstract Article PDF–2.7M

Select item 258075513.

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene

Sara J. Bowne, Stephen P. Daiger, Kimberly A. Malone, John R. Heckenlively, Avril Kennan, Peter Humphries, Dianna Hughbanks-Wheaton, David G. Birch, Qin Liu, Eric A. Pierce, Jian Zuo, Qian Huang, Danyel D. Donovan, Lori S. Sullivan

Mol Vis. Author manuscript; available in PMC 2008 Nov 6.

Published in final edited form as: Mol Vis. 2003 Apr 24; 9: 129–137. Published online 2003 Apr 24.

PMCID:: PMC2580755

Abstract Article PDF–1.1M

Select item 155040214.

The evolving doublecortin (DCX) superfamily

Orly Reiner, Frédéric M Coquelle, Bastian Peter, Talia Levy, Anna Kaplan, Tamar Sapir, Irit Orr, Naama Barkai, Gregor Eichele, Sven Bergmann

BMC Genomics. 2006; 7: 188. Published online 2006 Jul 26. doi: 10.1186/1471-2164-7-188

PMCID:: PMC1550402

Abstract Article PDF–2.9M

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