| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | ACHM2, ACHM3, CBNGA3, CNGB3
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| Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
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| Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
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| Ophthalmology 117(4):825-30.e1. Epub 2010 Jan 15.PMID: 20079539 2010
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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | ACHM2
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| Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
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| Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC.
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| Hum Mol Genet 6(5):689-94. 1997
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