| 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 | CNGA3, CNGB3
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| The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.
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| Ding XQ, Thapa A, Ma H, Xu J, Elliott MH, Rodgers KK, Smith ML, Wang JS, Pittler SJ, Kefalov VJ.
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| J Biol Chem 291(16):8721-34. doi: 10.1074/jbc.M115.696138. Epub 2016 Feb 18.
2016
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| 5 | ACHM2, CNGA3
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| Achromatopsia caused by novel missense mutations in the CNGA3 gene.
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| Chen XT, Huang H, Chen YH, Dong LJ, Li XR, Zhang XM.
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| Int J Ophthalmol 8(5):910-5. doi: 10.3980/j.issn.2222-3959.2015.05.10. eCollection 2015.
2015
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| 6 | ACHM2, CNGA3
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| Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
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| Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM.
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| Eur J Hum Genet 23(4):473-80. doi: 10.1038/ejhg.2014.136. Epub 2014 Jul 23.
2015
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| 7 | CNGA3, CNGB3
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| Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.
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| Dai G, Sherpa T, Varnum MD.
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| J Biol Chem 289(19):13680-90. doi: 10.1074/jbc.M114.562272. Epub 2014 Mar 27.
2014
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| 8 | 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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| 9 | ACHM2, CNGA3
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| CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
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| Dai G, Varnum MD.
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| Am J Physiol Cell Physiol 305(2):C147-59. doi: 10.1152/ajpcell.00037.2013. Epub 2013 Apr 3.
2013
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| 10 | CDH23, CNGA3, MYO7A
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| Cyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction.
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| Selvakumar D, Drescher MJ, Drescher DG.
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| J Biol Chem 288(10):7215-29. doi: 10.1074/jbc.M112.443226. Epub 2013 Jan 17.
2013
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| 11 | CNGA3, CNGB3
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| Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.
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| Thapa A, Morris L, Xu J, Ma H, Michalakis S, Biel M, Ding XQ.
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| J Biol Chem 287(22):18018-29. doi: 10.1074/jbc.M112.342220. Epub 2012 Apr 9.
2012
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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 | CNGA3, CNGB3
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| Photoreceptor structure and function in patients with congenital achromatopsia.
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| Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.
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| Invest Ophthalmol Vis Sci. 52(10):7298-308. 2011
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| 14 | CNGA3
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| CNGA3: a target of spinal nitric oxide/cGMP signaling and modulator of inflammatory pain hypersensitivity.
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| Heine S, Michalakis S, Kallenborn-Gerhardt W, Lu R, Lim HY, Weiland J, Del Turco D, Deller T, Tegeder I, Biel M, Geisslinger G, Schmidtko A.
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| J Neurosci 31(31):11184-92.
2011
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| 15 | ACHM2, CNGA3
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| The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.
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| Matveev AV, Fitzgerald JB, Xu J, Malykhina AP, Rodgers KK, Ding XQ.
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| Biochemistry 49(8):1628-39.
2010
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| 16 | CNGA3, CNGB3
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| Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.
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| Ding XQ, Harry CS, Umino Y, Matveev AV, Fliesler SJ, Barlow RB.
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| Hum Mol Genet 18(24):4770-80. Epub 2009 Sep 17.PMID: 19767295 2009
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| 17 | ACHM2, CNGA3
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| Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
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| Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group.
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| Hum Mutat 29(10):1228-36.
2008
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| 18 | CNGA3
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| Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate.
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| Bright SR, Rich ED, Varnum MD.
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| Mol Pharmacol 71(1):176-83. Epub 2006 Oct 3. 2007
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| 19 | CNGA3
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| Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
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| Muraki-Oda S, Toyoda F, Okada A, Tanabe S, Yamade S, Ueyama H, Matsuura H, Ohji M.
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| Biochem Biophys Res Commun 362(1):88-93. Epub 2007 Aug 6. 2007
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| 20 | ACHM2, ACHM3, ACHM4, CABP4, CACNA1F, CNGA3, CNGB3, CRSD, CSNB10, CSNB1A, CSNB1B, CSNB2A, CSNB2B, ESCS, GNAT2, GRM6, NR2E3, NYX
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| Molecular genetics of infantile-onset retinal dystrophies.
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| Moradi P, Moore AT.
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| Eye 21(10):1344-51. 2007
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| 21 | CNGA3, ACHM2
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| Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
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| Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.
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| Vis Neurosci 23(3-4):395-402. 2006
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| 22 | CNGA3, ACHM2, CNGB3, ACHM3, GNAT2, RCD2
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| Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
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| Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.
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| Hum Mutat 25(3):248-58. 2005
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| 23 | CNGA3, ACHM2
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| Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.
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| Liu C, Varnum MD.
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| Am J Physiol Cell Physiol 289(1):C187-98. Epub 2005 Mar 2. 2005
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| 24 | CNGA3, ACHM2
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| Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
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| Patel KA, Bartoli KM, Fandino RA, Ngatchou AN, Woch G, Carey J, Tanaka JC.
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| Invest Ophthalmol Vis Sci 46(7):2282-90. 2005
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| 25 | CNGA3, CNGB3
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| Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function.
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| Okada A, Ueyama H, Toyoda F, Oda S, Ding WG, Tanabe S, Yamade S, Matsuura H, Ohkubo I, Kani K.
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| Invest Ophthalmol Vis Sci 45(7):2324-32. 2004
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| 26 | CNGA3
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| Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
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| Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.
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| Eur J Hum Genet 10(12):865-9. 2002
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| 27 | CNGA1, CNGA2, CNGA3, CNGB1, CNGB3
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| The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.
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| Zhong H, Molday LL, Molday RS, Yau KW.
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| Nature 420(6912):193-8. 2002
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| 28 | ACHM2, CNGA3
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| CNGA3 mutations in hereditary cone photoreceptor disorders.
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| Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S.
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| Am J Hum Genet 69(4):722-37. 2001
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| 29 | CNGA3
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| Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.
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| Biel M, et al.
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| Proc Natl Acad Sci U S A 96(13):7553-7. 1999
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| 30 | CNGA3, ACHM2
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| Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
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| Kohl S, et al.
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| Nat Genet 19 : 257-259. 1998
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| 31 | ACHM2, CNGA3
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| Human rod monochromacy : linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
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| Wissinger B, et al.
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| Genomics 51 : 325-331. 1998
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| 32 | CNGA3
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| Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.
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| Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E.
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| Eur J Neurosci 9(12):2512-21. 1997
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| 33 | CNGA3
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| Molecular cloning, functional expression and chromosomal localization of a human homolog of the cyclic nucleotide-gated ion channel of retinal cone photoreceptors.
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| Yu WP, et al.
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| FEBS Lett 393 : 211-215. 1996
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| 34 | CNGA2, CNGA3
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| Expression of cyclic nucleotide-gated cation channels in non-sensory tissues andcells.
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| Distler M, Biel M, Flockerzi V, Hofmann F.
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| Neuropharmacology 33(11):1275-82. 1994
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| 35 | CNGA3
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| Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart.
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| Biel M, Zong X, Distler M, Bosse E, Klugbauer N, Murakami M, Flockerzi V, Hofmann F.
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| Proc Natl Acad Sci U S A 91(9):3505-9. 1994
|