Citations for
1ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
Sun W, Li S, Xiao X, Wang P, Zhang Q.
Mol Vis. Aug 22;26:588-602 2020
2ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature
Aviñó-Martínez J, Silva E, Harto-Castaño M
J Pediatr Ophthalmol Strabismus Mar 1;55(2):85-92. doi: 10.3928/01913913-20171117-01. Epub 2017 Dec 19. 2018
3ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group.
Hum Mutat. Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28. 2017
4ARR3, MAPK15, MEF2C, OPN1MW, PDE6H
Retinal expression and localization of Mef2c support its important role in photoreceptor gene expression
Wolf A, Aslanidis A, Langmann T.
Biochem Biophys Res Commun. Jan 29;483(1):346-351. doi: 10.1016/j.bbrc.2016.12.141. Epub 2016 Dec 23. 2017
5PDE6A, PDE6B, PDE6C, PDE6G, PDE6H
Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity
Lagman D, Franzén IE, Eggert J, Larhammar D, Abalo XM.
BMC Evol Biol. Jun 13;16(1):124. doi: 10.1186/s12862-016-0695-z. 2016
6ARR3, CACNA1S, CRX, GUCA1B, MEF2D, PDE6H
Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells.
Omori Y, Kitamura T, Yoshida S, Kuwahara R, Chaya T, Irie S, Furukawa T.
Genes Cells 20(5):408-26. doi: 10.1111/gtc.12233. Epub 2015 Mar 11. 2015
7PDE6H
Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory
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.
J Biol Chem. Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4. 2015
8PDE6H, RCD6
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia.
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.
Am J Hum Genet 91(3):527-532. Epub 2012 Aug 16. 2012
9KCNV2, PDE6H, RCD5, RCD6
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
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.
Invest Ophthalmol Vis Sci 49(2):751-7. 2008
10KCNV2, PDE6H, RCD5, RCD6
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
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.
Am J Hum Genet 79(3):574-9. Epub 2006 Jul 24. 2006
11PDE6H, RCD6
A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB.
Ophthalmology 112(1):159-66. 2005
12PDE6H
Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H).
Shimizu-Matsumoto A, et al.
Genomics 32 : 121-124. 1996