PMC Links for Protein (Select 296452882) - PMC

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Links from Protein

Items: 12

Select item 43513781.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen

Hum Mol Genet. 2015 Mar 15; 24(6): 1584–1601. Published online 2014 Nov 14. doi: 10.1093/hmg/ddu573

PMCID:: PMC4351378

Abstract Article PDF–1.7M

Select item 30943462.

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

PLoS One. 2011; 6(5): e19458. Published online 2011 May 13. doi: 10.1371/journal.pone.0019458

PMCID:: PMC3094346

Abstract Article PDF–100K

Select item 30603273.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Lorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, Nicole Weisschuh, Eugen Gramer, Bernhard HF Weber, Bernd Rautenstrauss, Paulo A Ferreira, Friedrich E Kruse, André Reis, Ronald Roepman, Francesca Pasutto

Eur J Hum Genet. 2011 Apr; 19(4): 445–451. Published online 2011 Jan 12. doi: 10.1038/ejhg.2010.217

PMCID:: PMC3060327

Abstract Article PDF–441K

Select item 24930254.

Molecular characterization of Leber congenital amaurosis in Koreans

Moon-Woo Seong, Seong Yeon Kim, Young Suk Yu, Jeong-Min Hwang, Ji Yeon Kim, Sung Sup Park

Mol Vis. 2008; 14: 1429–1436. Published online 2008 Aug 4.

PMCID:: PMC2493025

Abstract Article PDF–1.2M

Select item 22136765.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Abstract Article PDF–939K

Select item 17355636.

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

A Hameed, A Abid, A Aziz, M Ismail, S Mehdi, S Khaliq

J Med Genet. 2003 Aug; 40(8): 616–619. doi: 10.1136/jmg.40.8.616

PMCID:: PMC1735563

Summary PDF–214K

Select item 13179167.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P. M. Cremers

Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51): 18520–18525. Published online 2005 Dec 9. doi: 10.1073/pnas.0505774102

PMCID:: PMC1317916

Abstract Article PDF–650K

Select item 5289288.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 46078249.

Quantitative proteomic analysis for high-throughput screening of differential glycoproteins in hepatocellular carcinoma serum

Hua-Jun Gao, Ya-Jing Chen, Duo Zuo, Ming-Ming Xiao, Ying Li, Hua Guo, Ning Zhang, Rui-Bing Chen

Cancer Biol Med. 2015 Sep; 12(3): 246–254. doi: 10.7497/j.issn.2095-3941.2015.0010

PMCID:: PMC4607824

Abstract Article PDF–1014K

Select item 427124210.

The E3 Ubiquitin Ligase Thyroid Hormone Receptor-interacting Protein 12 Targets Pancreas Transcription Factor 1a for Proteasomal Degradation

Naïma Hanoun, Samuel Fritsch, Odile Gayet, Véronique Gigoux, Pierre Cordelier, Nelson Dusetti, Jérôme Torrisani, Marlène Dufresne

J Biol Chem. 2014 Dec 19; 289(51): 35593–35604. Published online 2014 Oct 29. doi: 10.1074/jbc.M114.620104

PMCID:: PMC4271242

Abstract Article PDF–1.6M

Select item 327215111.

Proteome Dataset of Human Gingival Crevicular Fluid from Healthy Periodontium Sites by Multi-Dimensional Protein Separation and Mass Spectrometry

Leandro G. Carneiro, Caterina Venuleo, Frank G. Oppenheim, Erdjan Salih

J Periodontal Res. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: J Periodontal Res. 2012 Apr; 47(2): 248–262. Published online 2011 Oct 26. doi: 10.1111/j.1600-0765.2011.01429.x

PMCID:: PMC3272151

Abstract Article PDF–1.1M

Select item 292870612.

Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

Basil S. Pawlyk, Oleg V. Bulgakov, Xiaoqing Liu, Xiaoyun Xu, Michael Adamian, Xun Sun, Shahrokh C. Khani, Eliot L. Berson, Michael A. Sandberg, Tiansen Li

Hum Gene Ther. 2010 Aug; 21(8): 993–1004. Published online 2010 Jul 16. doi: 10.1089/hum.2009.218