PMC Links for Protein (Select 1345920) - PMC

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Select item 61675911.

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca²⁺-Dependent Cyclic GMP Synthesis

Hanna Wimberg, Dorit Lev, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch

Front Mol Neurosci. 2018; 11: 348. Published online 2018 Sep 25. doi: 10.3389/fnmol.2018.00348

PMCID:: PMC6167591

Article PDF–2.7M

Select item 53587992.

Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

Veronique B. D. Kitiratschky, Robert Wilke, Agnes B. Renner, Ulrich Kellner, Maria Vadalà, David G. Birch, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2017 Mar 20.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2008 Nov; 49(11): 5015–5023. Published online 2008 May 16. doi: 10.1167/iovs.08-1901

PMCID:: PMC5358799

Article PDF–745K

Select item 49673173.

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon, Eyal Banin, Eyal Walter, Tova Lifshitz, Ohad S. Birk

BMC Med Genet. 2016; 17: 52. Published online 2016 Jul 30. doi: 10.1186/s12881-016-0314-2

PMCID:: PMC4967317

Article PDF–1.5M

Select item 45281254.

Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface

Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor

J Biol Chem. 2015 Aug 7; 290(32): 19584–19596. Published online 2015 Jun 22. doi: 10.1074/jbc.M115.661371

PMCID:: PMC4528125

Article PDF–3.8M

Select item 42967705.

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel

Csilla H. Lazar, Mousumi Mutsuddi, Adva Kimchi, Lina Zelinger, Liliana Mizrahi-Meissonnier, Devorah Marks-Ohana, Alexis Boleda, Rinki Ratnapriya, Dror Sharon, Anand Swaroop, Eyal Banin

Invest Ophthalmol Vis Sci. 2015 Jan; 56(1): 420–430. Published online 2015 Jan 15. doi: 10.1167/iovs.14-15647

PMCID:: PMC4296770

Article PDF–1.1M

Select item 39836496.

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

R Mukherjee, A G Robson, G E Holder, A Stockman, C A Egan, A T Moore, A R Webster

Eye (Lond) 2014 Apr; 28(4): 481–487. Published online 2014 Jan 31. doi: 10.1038/eye.2014.7

PMCID:: PMC3983649

Article PDF–1.1M

Select item 36687027.

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy

Xin Zhao, YanFan Ren, Xiaohui Zhang, Changxi Chen, Bing Dong, Yang Li

Mol Vis. 2013; 19: 1039–1046. Published online 2013 May 21.

PMCID:: PMC3668702

Article PDF–4.8M

Select item 32444788.

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

Xueshan Xiao, Xiangming Guo, Xiaoyun Jia, Shiqiang Li, Panfeng Wang, Qingjiong Zhang

Mol Vis. 2011; 17: 3271–3278. Published online 2011 Dec 15.

PMCID:: PMC3244478

Article PDF–1.6M

Select item 32061809.

Retinal Degeneration 3 (RD3) Protein Inhibits Catalytic Activity of Retinal Membrane Guanylyl Cyclase (RetGC) and Its Stimulation by Activating Proteins

Igor V. Peshenko, Elena V. Olshevskaya, Seifollah Azadi, Laurie L. Molday, Robert S. Molday, Alexander M. Dizhoor

Biochemistry. Author manuscript; available in PMC 2012 Nov 8.

Published in final edited form as: Biochemistry. 2011 Nov 8; 50(44): 9511–9519. Published online 2011 Oct 11. doi: 10.1021/bi201342b

PMCID:: PMC3206180

Article PDF–2.2M

Select item 309434610.

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

Article PDF–100K

Select item 308745011.

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Maria Garcia-Hoyos, Carmen Laura Auz-Alexandre, Berta Almoguera, Diego Cantalapiedra, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Ascension Gimenez, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Maria Jose Trujillo-Tiebas, Blanca Garcia-Sandoval, Carmen Ramos, Carmen Ayuso

Mol Vis. 2011; 17: 1103–1109. Published online 2011 Apr 29.

PMCID:: PMC3087450

Article PDF–682K

Select item 300027512.

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

Seifollah Azadi, Laurie L. Molday, Robert S. Molday

Proc Natl Acad Sci U S A. 2010 Dec 7; 107(49): 21158–21163. Published online 2010 Nov 15. doi: 10.1073/pnas.1010460107

PMCID:: PMC3000275

Article PDF–791K

Select item 298746113.

A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis

Sibel A Ugur Iseri, Yusuf K Durlu, Aslihan Tolun

Eur J Hum Genet. 2010 Oct; 18(10): 1121–1126. Published online 2010 Jun 2. doi: 10.1038/ejhg.2010.81

PMCID:: PMC2987461

Article PDF–662K

Select item 271271914.

Patterns of somatic mutation in human cancer genomes

Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L. Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens, Sarah Edkins, Sarah O'Meara, Imre Vastrik, Esther E. Schmidt, Tim Avis, Syd Barthorpe, Gurpreet Bhamra, Gemma Buck, Bhudipa Choudhury, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kris Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jon Hinton, Andy Jenkinson, David Jones, Andy Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, Dave Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, Daniel P. Cahill, David N. Louis, Peter Goldstraw, Andrew G. Nicholson, Francis Brasseur, Leendert Looijenga, Barbara L. Weber, Yoke-Eng Chiew, Anna deFazio, Mel F. Greaves, Anthony R. Green, Peter Campbell, Ewan Birney, Douglas F. Easton, Georgia Chenevix-Trench, Min-Han Tan, Sok Kean Khoo, Bin Tean Teh, Siu Tsan Yuen, Suet Yi Leung, Richard Wooster, P. Andrew Futreal, Michael R. Stratton

Nature. Author manuscript; available in PMC 2009 Jul 20.

Published in final edited form as: Nature. 2007 Mar 8; 446(7132): 153–158. doi: 10.1038/nature05610

PMCID:: PMC2712719

Article PDF–867K

Select item 137732515.

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

I Perrault, J M Rozet, S Gerber, R E Kelsell, E Souied, A Cabot, D M Hunt, A Munnich, J Kaplan

Am J Hum Genet. 1998 Aug; 63(2): 651–654. doi: 10.1086/301985

PMCID:: PMC1377325

Summary PDF–1.3M

Select item 2831916.

Catalytic mechanism of the adenylyl and guanylyl cyclases: Modeling and mutational analysis

Yu Liu, Arnold E. Ruoho, Vibha D. Rao, James H. Hurley

Proc Natl Acad Sci U S A. 1997 Dec 9; 94(25): 13414–13419. doi: 10.1073/pnas.94.25.13414

PMCID:: PMC28319

Article PDF–485K

Select item 2757317.

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase

Chandra L. Tucker, James H. Hurley, Taunya R. Miller, James B. Hurley

Proc Natl Acad Sci U S A. 1998 May 26; 95(11): 5993–5997. doi: 10.1073/pnas.95.11.5993

PMCID:: PMC27573

Article PDF–424K

Select item 565066118.

THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Catalytic receptors

Stephen PH Alexander, Doriano Fabbro, Eamonn Kelly, Neil V Marrion, John A Peters, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2017 Dec; 174(Suppl Suppl 1): S225–S271. Published online 2017 Oct 21. doi: 10.1111/bph.13876

PMCID:: PMC5650661

Article PDF–1.1M

Select item 471820819.

The Concise Guide to PHARMACOLOGY 2015/16: Catalytic receptors

Stephen PH Alexander, Doriano Fabbro, Eamonn Kelly, Neil Marrion, John A Peters, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2015 Dec; 172(24): 5979–6023. Published online 2015 Dec 9. doi: 10.1111/bph.13353

PMCID:: PMC4718208

Article PDF–1.2M

Select item 469532620.

Priorities and trends in the study of proteins in eye research, 1924–2014

Richard D. Semba, Maggie Lam, Kai Sun, Pingbo Zhang, Debra A. Schaumberg, Luigi Ferrucci, Peipei Ping, Jennifer E. Van Eyk

Proteomics Clin Appl. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Proteomics Clin Appl. 2015 Dec; 9(0): 1105–1122. Published online 2015 Sep 16. doi: 10.1002/prca.201500006

PMCID:: PMC4695326

Article PDF–1.7M

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