| 1 | PDE6C
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| An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas
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| Bachu VS, Kandoi S, Park KU, Kaufman ML, Schwanke M, Lamba DA, Brzezinski JA 4th.
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| Dev Biol. Aug;488:131-150. doi: 10.1016/j.ydbio.2022.05.012. Epub 2022 May 26. 2022
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| 2 | AIPL1, PDE6C
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| Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1
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| Yadav RP, Boyd K, Artemyev NO.
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| J Biol Chem. Mar;298(3):101620. doi: 10.1016/j.jbc.2022.101620. Epub 2022 Jan 21. 2022
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| 3 | PDE6C, RCD7
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| Two novel PDE6C gene mutations in Chinese family with achromatopsia.
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| Yuan S, Qi R, Fang X, Wang X, Zhou L, Sheng X.
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| Ophthalmic Genet. Dec ;41(6):591-598. doi: 10.1080/13816810.2020.1802762. Epub 2020 Aug 12. 2020
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| 4 | ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
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| Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
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| Sun W, Li S, Xiao X, Wang P, Zhang Q.
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| Mol Vis. Aug 22;26:588-602 2020
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| 5 | PDE6C, RCD7
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| Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
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| Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.
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| Hum Mutat. Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. 2018
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| 6 | ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
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| Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature
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| Aviñó-Martínez J, Silva E, Harto-Castaño M
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| J Pediatr Ophthalmol Strabismus Mar 1;55(2):85-92. doi: 10.3928/01913913-20171117-01. Epub 2017 Dec 19. 2018
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| 7 | PDE6C, PDE6D
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| Mechanisms of mutant PDE6 proteins underlying retinal diseases
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| Gopalakrishna KN, Boyd K, Artemyev NO.
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| Cell Signal. Sep;37:74-80. doi: 10.1016/j.cellsig.2017.06.002. Epub 2017 Jun 2. 2017
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| 8 | ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
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| CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
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| Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group.
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| Hum Mutat. Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28. 2017
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| 9 | PDE6A, PDE6B, PDE6C, PDE6G, PDE6H
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| Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity
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| Lagman D, Franzén IE, Eggert J, Larhammar D, Abalo XM.
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| BMC Evol Biol. Jun 13;16(1):124. doi: 10.1186/s12862-016-0695-z. 2016
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| 10 | PDE6C, RCD7
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| Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
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| Cheguru P, Majumder A, Artemyev NO.
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| Mol Cell Neurosci. Jan;64:1-8. doi: 10.1016/j.mcn.2014.10.007. Epub 2014 Nov 11 2015
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| 11 | CNGA3, CNGB3, GNAT2, PDE6C
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| Retinal structure and function in achromatopsia: implications for gene therapy
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| Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M.
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| Ophthalmology Jan;121(1):234-245. doi: 10.1016/j.ophtha.2013.08.017. Epub 2013 Oct 20. 2014
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| 12 | CNGA3, EMILIN1, PDE6C
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| CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1
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| Selvakumar D, Drescher MJ, Dowdall JR, Khan KM, Hatfield JS, Ramakrishnan NA, Drescher DG.
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| Biochem J. Apr 15;443(2):463-76. doi: 10.1042/BJ20111255. 2012
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| 13 | PDE6C, RCD7
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| Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
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| Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S.
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| Hum Mol Genet 20(4):719-30. Epub 2010 Dec 1.
2011
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| 14 | CORD15, PDE6C, RCD7
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| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
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| Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
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| Am J Hum Genet 85(2):240-7. Epub 2009 Jul 16. 2009
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| 15 | PDE6C, RCD7
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| A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
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| Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B.
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| Proc Natl Acad Sci U S A 106(46):19581-6. Epub 2009 Nov 3.PMID: 19887631 2009
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| 16 | ARR3, CRX, GCAP1, GNB3, GNGT1, GNGT2, IMPDH1, OPN1LW, OPN1MW, PDE6C, RP1L1, TIMP3
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| Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.
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| Liu Y, Fu L, Chen DG, Deeb SS.
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| Vision Res 47(17):2314-26. Epub 2007 Jul 25.
2007
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| 17 | AGAP10, AGAP6, AGAP7, AGAP8, AKR1CL1, ALDH18A1, ANXA8L1, BTBD16, C10orf103, C10orf108, C10orf111, C10orf113, C10orf114, C10orf115, C10orf120, C10orf122, C10orf25, C10orf26, C10orf30, C10orf32, C10orf35, C10orf47, C10orf55, C10orf67, C10orf71, CACUL1, CALHM1, CH25H, EBF3, FAM22D, FAM23A, FAM23B, FAM24A, FAM25A, FAM25B, FAM25C, FAM25D, FAM25E, FAM25G, FAM25HP, FZD8, GPAM, HECTD2, HOGA1, PDE6C, SYNPO2L, TET1, UTF1, VAX1, XPNPEP1, YME1L1, ZCCHC24, ZNF511
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| The DNA sequence and comparative analysis of human chromosome 10.
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| Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J.
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| Nature 429(6990):375-81. 2004
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| 18 | PDE6C
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| Molecular evidence that human ocular ciliary epithelium expresses components involved in phototransduction.
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| Bertazolli-Filho R, Ghosh S, Huang W, Wollmann G, Coca-Prados M.
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| Biochem Biophys Res Commun 284(2):317-25. 2001
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| 19 | PDE6C
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| Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
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| Gao YQ, et al.
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| Invest Ophthalmol Vis Sci 40(8):1818-22 1999
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| 20 | ENTPD1, CYP2C@, DNTT, GOT1, IDE, IFIT1, PAX2, PDE6C, RBP4, WNT8B
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| An integrated physical and genetic map spanning chromosome band 10q24.
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| Gray IC, Fallowfield J, Ford S, Nobile C, Volpi EV, Spurr NK.
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| Genomics 43(1):85-8. 1997
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| 21 | PDE6C
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| Human cone-specific cGMP phosphodiesterase alpha' subunit : complete cDNA sequence and gene arrangement.
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| Feshchenko EA, et al.
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| FEBS Lett 381 : 149-152. 1996
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| 22 | PDE6C
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| Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase.
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| Viczian AS, et al.
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| Gene 166 : 205-211. 1995
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| 23 | PDE6C
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| Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24.
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| Piriev NI, et al.
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| Genomics 28 : 429-435. 1995
|