PMC Links for GEO Profiles (Select 56902404) - PMC

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 99388854.

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

Peggy Reuter, Magdalena Walter, Susanne Kohl, Nicole Weisschuh

Sci Rep. 2023; 13: 2896. Published online 2023 Feb 18. doi: 10.1038/s41598-023-29452-9

PMCID:: PMC9938885

Abstract Article PDF–2.4M

Select item 90314575.

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

Sairah Yousaf, Nabeela Tariq, Zureesha Sajid, Shakeel A. Sheikh, Tasleem Kausar, Yar M. Waryah, Rehan S. Shaikh, Ali M. Waryah, Saumil Sethna, Saima Riazuddin, Zubair M. Ahmed

Genes (Basel) 2022 Apr; 13(4): 617. Published online 2022 Mar 29. doi: 10.3390/genes13040617

PMCID:: PMC9031457

Abstract Article PDF–3.6M

Select item 89290186.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

Curr Issues Mol Biol. 2021 Sep; 43(2): 941–957. Published online 2021 Aug 16. doi: 10.3390/cimb43020067

PMCID:: PMC8929018

Abstract Article PDF–3.8M

Select item 88887617.

Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel

Xiangdong Zheng, Huan Li, Zhengshan Hu, Deyuan Su, Jian Yang

Commun Biol. 2022; 5: 190. Published online 2022 Mar 1. doi: 10.1038/s42003-022-03120-6

PMCID:: PMC8888761

Abstract Article PDF–4.8M

Select item 83529648.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Abstract Article PDF–4.5M

Select item 81745709.

Retinal Morphology of Patients With Achromatopsia During Early Childhood: Implications for Gene Therapy

Paul Yang, Keith V. Michaels, Robert J. Courtney, Yuquan Wen, Daniel A. Greninger, Leah Reznick, Daniel J. Karr, Lorri B. Wilson, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Jun 3.

Published in final edited form as: JAMA Ophthalmol. 2014 Jul; 132(7): 823–831. doi: 10.1001/jamaophthalmol.2014.685

PMCID:: PMC8174570

Abstract Article PDF–747K

Select item 816503010.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 716998311.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 706152112.

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Joachim Täger, Susanne Kohl, David G. Birch, Dianna K.H. Wheaton, Bernd Wissinger, Peggy Reuter

Exp Eye Res. Author manuscript; available in PMC 2020 Mar 9.

Published in final edited form as: Exp Eye Res. 2018 Jun; 171: 48–53. Published online 2018 Feb 27. doi: 10.1016/j.exer.2018.02.027

PMCID:: PMC7061521

Abstract Article PDF–555K

Select item 635494113.

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

Michalis Georgiou, Katie M. Litts, Angelos Kalitzeos, Christopher S. Langlo, Thomas Kane, Navjit Singh, Melissa Kassilian, Nashila Hirji, Neruban Kumaran, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Invest Ophthalmol Vis Sci. 2019 Jan; 60(1): 383–396. doi: 10.1167/iovs.18-25880

PMCID:: PMC6354941

Abstract Article PDF–1.6M

Select item 616668214.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 553161115.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 536158116.

Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep

Elisha Gootwine, Mazen Abu-Siam, Alexey Obolensky, Alex Rosov, Hen Honig, Tali Nitzan, Andrey Shirak, Raaya Ezra-Elia, Esther Yamin, Eyal Banin, Edward Averbukh, William W. Hauswirth, Ron Ofri, Eyal Seroussi

Invest Ophthalmol Vis Sci. 2017 Mar; 58(3): 1577–1584. doi: 10.1167/iovs.16-20986

PMCID:: PMC5361581

Abstract Article PDF–829K

Select item 466657817.

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Rehan S Shaikh, Peggy Reuter, Robert A Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad I Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger, Zubair M Ahmed

Eur J Hum Genet. 2015 Apr; 23(4): 473–480. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.136

PMCID:: PMC4666578

Abstract Article PDF–2.2M

Select item 465772718.

CNG channel subunit glycosylation regulates MMP-dependent changes in channel gating

Starla E. Meighan, Peter C. Meighan, Elizabeth D. Rich, R. Lane Brown, Michael D. Varnum

Biochemistry. Author manuscript; available in PMC 2015 Nov 24.

Published in final edited form as: Biochemistry. 2013 Nov 19; 52(46): 8352–8362. Published online 2013 Nov 11. doi: 10.1021/bi400824x

PMCID:: PMC4657727

Abstract Article PDF–949K

Select item 403637219.

Alternative Splicing Governs Cone Cyclic Nucleotide-gated (CNG) Channel Sensitivity to Regulation by Phosphoinositides

Gucan Dai, Tshering Sherpa, Michael D. Varnum

J Biol Chem. 2014 May 9; 289(19): 13680–13690. Published online 2014 Mar 27. doi: 10.1074/jbc.M114.562272

PMCID:: PMC4036372

Abstract Article PDF–1.0M

Select item 394316420.

Whole-Exome Sequencing Identifies ALMS1, IQCB1, CNGA3, and MYO7A Mutations in Patients with Leber Congenital Amaurosis

Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2014 Mar 5.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1450–1459. Published online 2011 Sep 23. doi: 10.1002/humu.21587

PMCID:: PMC3943164

Abstract Article PDF–1.5M

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