PMC Links for GEO Profiles (Select 11266241) - PMC

Select item 94347291.

Photoreceptor phosphodiesterase (PDE6): structure, regulatory mechanisms, and implications for treatment of retinal diseases

Rick H. Cote, Richa Gupta, Michael J. Irwin, Xin Wang

Adv Exp Med Biol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Adv Exp Med Biol. 2022; 1371: 33–59. doi: 10.1007/5584_2021_649

PMCID:: PMC9434729

Abstract Article PDF–2.5M

Select item 91069762.

Central Visual Function and Genotype–Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa

Laura Kuehlewein, Torsten Straßer, Gunnar Blumenstock, Katarina Stingl, M. Dominik Fischer, Barbara Wilhelm, Eberhart Zrenner, Bernd Wissinger, Susanne Kohl, Nicole Weisschuh, Ditta Zobor, for the RD-CURE Consortium

Invest Ophthalmol Vis Sci. 2022 May; 63(5): 9. Published online 2022 May 9. doi: 10.1167/iovs.63.5.9

PMCID:: PMC9106976

Abstract Article PDF–986K

Select item 87612663.

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

Yuyu Li, Ruyi Li, Hehua Dai, Genlin Li

BMC Ophthalmol. 2022; 22: 27. Published online 2022 Jan 15. doi: 10.1186/s12886-021-02242-5

PMCID:: PMC8761266

Abstract Article PDF–7.3M

Select item 81650304.

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 75636715.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

Laura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, Carmen Ayuso, Sandro Banfi, Beatrice Bocquet, Antje S. Bernd, Saskia Biskup, Camiel J. F. Boon, Susan M. Downes, M. Dominik Fischer, Frank G. Holz, Ulrich Kellner, Bart P. Leroy, Isabelle Meunier, Fadi Nasser, Thomas Rosenberg, Günther Rudolph, Katarina Stingl, Alberta A. H. J. Thiadens, Barbara Wilhelm, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl, Nicole Weisschuh

JAMA Ophthalmol. 2020 Dec; 138(12): 1241–1250. Published online 2020 Oct 15. doi: 10.1001/jamaophthalmol.2020.4206

PMCID:: PMC7563671

Abstract Article

Select item 72268126.

Hepatitis B Virus HBx Protein Mediates the Degradation of Host Restriction Factors through the Cullin 4 DDB1 E3 Ubiquitin Ligase Complex

Marissa M. Minor, F. Blaine Hollinger, Adrienne L. McNees, Sung Yun Jung, Antrix Jain, Joseph M. Hyser, Karl-Dimiter Bissig, Betty L. Slagle

Cells. 2020 Apr; 9(4): 834. Published online 2020 Mar 30. doi: 10.3390/cells9040834

PMCID:: PMC7226812

Abstract Article PDF–2.3M

Select item 66009157.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 65678418.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, Cécile Méjécase, Christel Condroyer, Aline Antonio, Marine Foussard, Vanessa Démontant, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

JAMA Ophthalmol. 2019 Jun; 137(6): 669–679. Published online 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6367

PMCID:: PMC6567841

Abstract Article

Select item 62832939.

Discovery of a Human Testis-specific Protein Complex TEX101-DPEP3 and Selection of Its Disrupting Antibodies

Christina Schiza, Dimitrios Korbakis, Efstratia Panteleli, Keith Jarvi, Andrei P. Drabovich, Eleftherios P. Diamandis

Mol Cell Proteomics. 2018 Dec; 17(12): 2480–2495. Published online 2018 Aug 10. doi: 10.1074/mcp.RA118.000749

PMCID:: PMC6283293

Abstract Article PDF–1.9M

Select item 468531210.

The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis

Giorgio Oliviero, Nayla Munawar, Ariane Watson, Gundula Streubel, Gwendolyn Manning, Vivian Bardwell, Adrian P. Bracken, Gerard Cagney

Sci Rep. 2015; 5: 18388. Published online 2015 Dec 21. doi: 10.1038/srep18388

PMCID:: PMC4685312

Abstract Article PDF–1.5M

Select item 453901711.

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

Shahid Y. Khan, Shahbaz Ali, Muhammad Asif Naeem, Shaheen N. Khan, Tayyab Husnain, Nadeem H. Butt, Zaheeruddin A. Qazi, Javed Akram, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin

Mol Vis. 2015; 21: 871–882. Published online 2015 Aug 18.

PMCID:: PMC4539017

Abstract Article PDF–4.1M

Select item 351083912.

Identification of Amino Acid Residues Responsible for the Selectivity of Tadalafil Binding to Two Closely Related Phosphodiesterases, PDE5 and PDE6

Karyn B. Cahill, Jonathan H. Quade, Karen L. Carleton, Rick H. Cote

J Biol Chem. 2012 Nov 30; 287(49): 41406–41416. Published online 2012 Oct 2. doi: 10.1074/jbc.M112.389189

PMCID:: PMC3510839

Abstract Article PDF–3.0M

Select item 347780413.

A Census of Human Soluble Protein Complexes

Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili

Cell. Author manuscript; available in PMC 2013 Aug 31.

Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011

PMCID:: PMC3477804

Abstract Article PDF–7.7M

Select item 317805914.

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 300096415.

Rod phosphodiesterase-6 PDE6A and PDE6B Subunits Are Enzymatically Equivalent

Hakim Muradov, Kimberly K. Boyd, Nikolai O. Artemyev

J Biol Chem. 2010 Dec 17; 285(51): 39828–39834. Published online 2010 Oct 12. doi: 10.1074/jbc.M110.170068

PMCID:: PMC3000964

Abstract Article PDF–940K

Select item 294516816.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583217.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 259346018.

A novel mutation and phenotypes in phosphodiesterase 6 deficiency

Stephen H. Tsang, Irena Tsui, Chai Lin Chou, Jana Zernant, Eneli Haamer, Reza Iranmanesh, Joaquin Tosi, Rando Allikmets

Am J Ophthalmol. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Am J Ophthalmol. 2008 Nov; 146(5): 780–788. Published online 2008 Aug 23. doi: 10.1016/j.ajo.2008.06.017

PMCID:: PMC2593460

Abstract Article PDF–2.2M

Select item 13924119.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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