PMC Articles for MedGen (Select 400963) - PMC

Anna V. Kukekova, Orly Goldstein, Jennifer L. Johnson, Malcolm A. Richardson, Susan E. Pearce-Kelling, Anand Swaroop, James S. Friedman, Gustavo D. Aguirre, Gregory M. Acland

Mamm Genome. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Mamm Genome. 2009 Feb; 20(2): 109–123. Published online 2009 Jan 9. doi: 10.1007/s00335-008-9163-4

PMCID:: PMC2652121

Abstract Article PDF–2.2M

Select item 79394555.

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness

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

J Biol Chem. 2020 Dec 25; 295(52): 18301–18315. Published online 2021 Jan 13. doi: 10.1074/jbc.RA120.015553

PMCID:: PMC7939455

Abstract Article PDF–4.9M

Select item 78891136.

Characterization of a novel allele encoding pheophorbide a oxygenase in rice

Zhihong Zhang, Yan He, Liangjian Li, Xiaobo Zhang, Xia Xu, Yongfeng Shi, Jian-Li Wu

Plant Signal Behav. 2021; 16(3): 1864606. Published online 2020 Dec 28. doi: 10.1080/15592324.2020.1864606

PMCID:: PMC7889113

Abstract Article PDF–8.4M

Select item 65340897.

Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque

K. Tyler McCullough, Sanford L. Boye, Diego Fajardo, Kaitlyn Calabro, James J. Peterson, Christianne E. Strang, Dibyendu Chakraborty, Sebastian Gloskowski, Scott Haskett, Steven Samuelsson, Haiyan Jiang, C. Douglas Witherspoon, Paul D. Gamlin, Morgan L. Maeder, Shannon E. Boye

Hum Gene Ther. 2019 May 1; 30(5): 571–589. Published online 2019 May 15. doi: 10.1089/hum.2018.193

PMCID:: PMC6534089

Abstract Article PDF–48M

Select item 51144048.

The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice

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

J Biol Chem. 2016 Nov 18; 291(47): 24504–24516. Published online 2016 Oct 4. doi: 10.1074/jbc.M116.755553

PMCID:: PMC5114404

Abstract Article PDF–2.8M

Select item 98674309.

Validating Immunomodulatory Responses of r-LdODC Protein and Its Derived HLA-DRB1 Restricted Epitopes against Visceral Leishmaniasis in BALB/c Mice

Rajkishor Pandey, Rohit Kumar Gautam, Simran Sharma, Mebrahtu G. Tedla, Vijay Mahantesh, Manas Ranjan Dikhit, Akhilesh Kumar, Krishna Pandey, Sanjiva Bimal

Pathogens. 2023 Jan; 12(1): 16. Published online 2022 Dec 22. doi: 10.3390/pathogens12010016

PMCID:: PMC9867430

Abstract Article PDF–1.1M

Select item 933812010.

Pattern of recurrence and survival after D2 right colectomy for cancer: is there place for a routine more extended lymphadenectomy?

Matteo Palmeri, Andrea Peri, Valentina Pucci, Niccolò Furbetta, Virginia Gallo, Gregorio Di Franco, Anna Pagani, Chiara Dauccia, Camilla Farè, Desirée Gianardi, Simone Guadagni, Matteo Bianchini, Annalisa Comandatore, Gianluca Masi, Chiara Cremolini, Beatrice Borelli, Luca Emanuele Pollina, Giulio Di Candio, Andrea Pietrabissa, Luca Morelli

Updates Surg. 2022; 74(4): 1327–1335. Published online 2022 Jul 1. doi: 10.1007/s13304-022-01317-2

PMCID:: PMC9338120

Abstract Article PDF–751K

Select item 926884811.

Non-Responsive and Refractory Coeliac Disease: Experience from the NHS England National Centre

Hugo A. Penny, Anupam Rej, Elisabeth M. R. Baggus, Sarah. H. Coleman, Rosalie Ward, Graeme Wild, Gerd Bouma, Nick Trott, John A. Snowden, Josh Wright, Simon S. Cross, Marios Hadjivassiliou, David S. Sanders

Nutrients. 2022 Jul; 14(13): 2776. Published online 2022 Jul 5. doi: 10.3390/nu14132776

PMCID:: PMC9268848

Abstract Article PDF–1.7M

Select item 885725112.

Causes of functional low vision in a Brazilian rehabilitation service

Manuela Molina Ferreira, Rosalia Antunes-Foschini, João M. Furtado

Sci Rep. 2022; 12: 2807. Published online 2022 Feb 18. doi: 10.1038/s41598-022-06798-0

PMCID:: PMC8857251

Abstract Article PDF–835K

Select item 851721213.

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase

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

J Biol Chem. 2021 Oct; 297(4): 101201. Published online 2021 Sep 16. doi: 10.1016/j.jbc.2021.101201

PMCID:: PMC8517212

Abstract Article PDF–4.7M

Select item 403330714.

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis

Laurie L. Molday, Thomas Jefferies, Robert S. Molday

Front Mol Neurosci. 2014; 7: 44. Published online 2014 May 26. doi: 10.3389/fnmol.2014.00044

PMCID:: PMC4033307

Abstract Article PDF–945K

Select item 317223815.

CREB1/ATF1 Activation in Photoreceptor Degeneration and Protection

William A. Beltran, Heather G. Allore, Elizabeth Johnson, Virginia Towle, Weng Tao, Gregory M. Acland, Gustavo D. Aguirre, Caroline J. Zeiss

Invest Ophthalmol Vis Sci. 2009 Nov; 50(11): 5355–5363. doi: 10.1167/iovs.09-3741

PMCID:: PMC3172238

Abstract Article PDF–3.2M

Select item 300027516.

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

Abstract Article PDF–791K

Select item 324447817.

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

Abstract Article PDF–1.6M

Select item 317801818.

Clinical course of cone dystrophy caused by mutations in the RPGR gene

Alberta A. H. J. Thiadens, Gyan G. Soerjoesing, Ralph J. Florijn, A. G. Tjiam, Anneke I. den Hollander, L. Ingeborgh van den Born, Frans C. Riemslag, Arthur A. B. Bergen, Caroline C. W. Klaver

Graefes Arch Clin Exp Ophthalmol. 2011; 249(10): 1527–1535. Published online 2011 Aug 25. doi: 10.1007/s00417-011-1789-3

PMCID:: PMC3178018

Abstract Article PDF–701K

Select item 1113964419.

RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

Michalis Georgiou, Kaoru Fujinami, Anthony G. Robson, Yu Fujinami-Yokokawa, Ahmed F. Shakarchi, Marco H. Ji, Sami H. Uwaydat, Angela Kim, Masha Kolesnikova, Gavin Arno, Nikolas Pontikos, Omar A. Mahroo, Stephen H. Tsang, Andrew R. Webster, Michel Michaelides

Am J Ophthalmol. 2024 Feb; 258: 119–129. doi: 10.1016/j.ajo.2023.09.025

PMCID:: PMC11139644

Abstract Article PDF–2.2M

Select item 1112132320.

In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A

Hoda Shamsnajafabadi, Maria Kaukonen, Julia-Sophia Bellingrath, Robert E. MacLaren, Jasmina Cehajic-Kapetanovic

Genes (Basel) 2024 May; 15(5): 625. Published online 2024 May 15. doi: 10.3390/genes15050625

PMCID:: PMC11121323

Abstract Article PDF–1.3M

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