PMC Links for GEO Profiles (Select 123483734) - PMC

Select item 112183531.

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

BMC Med Genomics. 2024; 17: 173. Published online 2024 Jul 1. doi: 10.1186/s12920-024-01942-3

PMCID:: PMC11218353

Abstract Article PDF–2.9M

Select item 108197632.

Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function

Sneha Singh, Dhiraj Srivastava, Kimberly Boyd, Nikolai O. Artemyev

J Biol Chem. 2024 Jan; 300(1): 105576. Published online 2023 Dec 16. doi: 10.1016/j.jbc.2023.105576

PMCID:: PMC10819763

Abstract Article PDF–1.0M

Select item 106765653.

An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas

Vismaya S. Bachu, Sangeetha Kandoi, Ko Uoon Park, Michael L. Kaufman, Michael Schwanke, Deepak A. Lamba, Joseph A. Brzezinski, IV

Dev Biol. Author manuscript; available in PMC 2023 Nov 26.

Published in final edited form as: Dev Biol. 2022 Aug; 488: 131–150. Published online 2022 May 26. doi: 10.1016/j.ydbio.2022.05.012

PMCID:: PMC10676565

Abstract Article PDF–2.9M

Select item 78737014.

Global proteomics of Ubqln2-based murine models of ALS

Alexandra M. Whiteley, Miguel A. Prado, Stefanie A.H. de Poot, Joao A. Paulo, Marissa Ashton, Sara Dominguez, Martin Weber, Hai Ngu, John Szpyt, Mark P. Jedrychowski, Amy Easton, Steven P. Gygi, Thimo Kurz, Mervyn J. Monteiro, Eric J. Brown, Daniel Finley

J Biol Chem. 2021 Jan-Jun; 296: 100153. Published online 2020 Dec 10. doi: 10.1074/jbc.RA120.015960

PMCID:: PMC7873701

Abstract Article PDF–3.0M

Select item 75450855.

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

Malena Daich Varela, Ehsan Ullah, Sairah Yousaf, Brian P. Brooks, Robert B. Hufnagel, Laryssa A. Huryn

Invest Ophthalmol Vis Sci. 2020 Oct; 61(12): 1. Published online 2020 Oct 1. doi: 10.1167/iovs.61.12.1

PMCID:: PMC7545085

Abstract Article PDF–2.8M

Select item 72758186.

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia

Ata Bushehri, Davood Zare-Abdollahi, Hesam Hashemian, Ladan Safavizadeh, Jalil Effati, Hamid Reza Khorram Khorshid

Iran Biomed J. 2020 Jul; 24(4): 257–263. Published online 2019 Dec 28. doi: 10.29252/ibj.24.4.257

PMCID:: PMC7275818

Abstract Article PDF–1.1M

Select item 55544587.

Mechanisms of Mutant PDE6 Proteins Underlying Retinal Diseases

Kota N. Gopalakrishna, Kimberly Boyd, Nikolai O. Artemyev

Cell Signal. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Cell Signal. 2017 Sep; 37: 74–80. Published online 2017 Jun 2. doi: 10.1016/j.cellsig.2017.06.002

PMCID:: PMC5554458

Abstract Article PDF–1.3M

Select item 44697438.

Exchange of Cone for Rod Phosphodiesterase 6 Catalytic Subunits in Rod Photoreceptors Mimics in Part Features of Light Adaptation

Anurima Majumder, Johan Pahlberg, Hakim Muradov, Kimberly K. Boyd, Alapakkam P. Sampath, Nikolai O. Artemyev

J Neurosci. 2015 Jun 17; 35(24): 9225–9235. doi: 10.1523/JNEUROSCI.3563-14.2015

PMCID:: PMC4469743

Abstract Article PDF–2.5M

Select item 35108399.

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 326920610.

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Tanja Grau, Nikolai O. Artemyev, Thomas Rosenberg, Hélène Dollfus, Olav H. Haugen, E. Cumhur Sener, Bernhard Jurklies, Sten Andreasson, Christoph Kernstock, Michael Larsen, Eberhart Zrenner, Bernd Wissinger, Susanne Kohl

Hum Mol Genet. 2011 Feb 15; 20(4): 719–730. Published online 2010 Dec 1. doi: 10.1093/hmg/ddq517

PMCID:: PMC3269206

Abstract Article PDF–456K

Select item 317805911.

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 311003712.

Clinical utility gene card for: achromatopsia

Susanne Kohl, Christian P Hamel

Eur J Hum Genet. 2011 Jun; 19(6) Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.231

PMCID:: PMC3110037

Article PDF–109K

Select item 294516813.

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 289646414.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 278168115.

Characterization of Human Cone Phosphodiesterase-6 Ectopically Expressed in Xenopus laevis Rods

Hakim Muradov, Kimberly K. Boyd, Mohammad Haeri, Vasily Kerov, Barry E. Knox, Nikolai O. Artemyev

J Biol Chem. 2009 Nov 20; 284(47): 32662–32669. Published online 2009 Sep 28. doi: 10.1074/jbc.M109.049916

PMCID:: PMC2781681

Abstract Article PDF–2.2M

Select item 278079016.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Bo Chang, Tanja Grau, Susann Dangel, Ron Hurd, Bernhard Jurklies, E. Cumhur Sener, Sten Andreasson, Helene Dollfus, Britta Baumann, Sylvia Bolz, Nikolai Artemyev, Susanne Kohl, John Heckenlively, Bernd Wissinger

Proc Natl Acad Sci U S A. 2009 Nov 17; 106(46): 19581–19586. Published online 2009 Nov 3. doi: 10.1073/pnas.0907720106

PMCID:: PMC2780790

Abstract Article PDF–1.7M

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 272524018.

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Alberta A.H.J. Thiadens, Anneke I. den Hollander, Susanne Roosing, Sander B. Nabuurs, Renate C. Zekveld-Vroon, Rob W.J. Collin, Elfride De Baere, Robert K. Koenekoop, Mary J. van Schooneveld, Tim M. Strom, Janneke J.C. van Lith-Verhoeven, Andrew J. Lotery, Norka van Moll-Ramirez, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Frans P.M. Cremers, Caroline C.W. Klaver

Am J Hum Genet. 2009 Aug 14; 85(2): 240–247. doi: 10.1016/j.ajhg.2009.06.016

PMCID:: PMC2725240

Abstract Article PDF–936K

Select item 31094819.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

Select item 13924120.

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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