1 | 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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2 | 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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3 | 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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4 | ARR3, MAPK15, MEF2C, OPN1MW, PDE6H
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| Retinal expression and localization of Mef2c support its important role in photoreceptor gene expression
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| Wolf A, Aslanidis A, Langmann T.
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| Biochem Biophys Res Commun. Jan 29;483(1):346-351. doi: 10.1016/j.bbrc.2016.12.141. Epub 2016 Dec 23. 2017
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5 | 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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6 | ARR3, CACNA1S, CRX, GUCA1B, MEF2D, PDE6H
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| Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells.
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| Omori Y, Kitamura T, Yoshida S, Kuwahara R, Chaya T, Irie S, Furukawa T.
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| Genes Cells 20(5):408-26. doi: 10.1111/gtc.12233. Epub 2015 Mar 11. 2015
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7 | PDE6H
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| Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory
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| Brennenstuhl C, Tanimoto N, Burkard M, Wagner R, Bolz S, Trifunovic D, Kabagema-Bilan C, Paquet-Durand F, Beck SC, Huber G, Seeliger MW, Ruth P, Wissinger B, Lukowski R.
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| J Biol Chem. Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4. 2015
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8 | PDE6H, RCD6
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| A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia.
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| Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; the European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B.
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| Am J Hum Genet 91(3):527-532. Epub 2012 Aug 16.
2012
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9 | KCNV2, PDE6H, RCD5, RCD6
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| Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
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| Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
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| Invest Ophthalmol Vis Sci 49(2):751-7.
2008
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10 | KCNV2, PDE6H, RCD5, RCD6
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| Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
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| Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR.
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| Am J Hum Genet 79(3):574-9. Epub 2006 Jul 24.
2006
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11 | PDE6H, RCD6
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| A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
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| Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB.
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| Ophthalmology 112(1):159-66. 2005
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12 | PDE6H
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| Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H).
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| Shimizu-Matsumoto A, et al.
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| Genomics 32 : 121-124. 1996
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