Citations for
1CNGA3, CNGB3
The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.
Ding XQ, Thapa A, Ma H, Xu J, Elliott MH, Rodgers KK, Smith ML, Wang JS, Pittler SJ, Kefalov VJ.
J Biol Chem 291(16):8721-34. doi: 10.1074/jbc.M115.696138. Epub 2016 Feb 18. 2016
2CNGB3
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia.
Marangoni D, Vijayasarathy C, Bush RA, Wei LL, Wen R, Sieving PA.
Invest Ophthalmol Vis Sci 56(11):6810-22. doi: 10.1167/iovs.15-16866. 2015
3CNGA3, CNGB3
Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.
Dai G, Sherpa T, Varnum MD.
J Biol Chem 289(19):13680-90. doi: 10.1074/jbc.M114.562272. Epub 2014 Mar 27. 2014
4CNGB3
Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
McClintock M, Peden MC, Kay CN.
Adv Exp Med Biol 801:551-7. doi: 10.1007/978-1-4614-3209-8_70. 2014
5CNGA3, CNGB3
Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.
Thapa A, Morris L, Xu J, Ma H, Michalakis S, Biel M, Ding XQ.
J Biol Chem 287(22):18018-29. doi: 10.1074/jbc.M112.342220. Epub 2012 Apr 9. 2012
6CNGA1, CNGB1, CNGB3
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.
Paquet-Durand F, Beck S, Michalakis S, Goldmann T, Huber G, Mühlfriedel R, Trifunović D, Fischer MD, Fahl E, Duetsch G, Becirovic E, Wolfrum U, van Veen T, Biel M, Tanimoto N, Seeliger MW.
Hum Mol Genet 20(5):941-7. Epub 2010 Dec 10. 2011
7CNGB3
Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.
Xu J, Morris L, Fliesler SJ, Sherry DM, Ding XQ.
Invest Ophthalmol Vis Sci. 52(6):3557-66. 2011
8CNGA3, CNGB3
Photoreceptor structure and function in patients with congenital achromatopsia.
Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.
Invest Ophthalmol Vis Sci. 52(10):7298-308. 2011
9ACHM3, CNGB3
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy.
Carvalho LS, Xu J, Pearson RA, Smith AJ, Bainbridge JW, Morris LM, Fliesler SJ, Ding XQ, Ali RR.
Hum Mol Genet 20(16):3161-75. Epub 2011 May 15. 2011
10ACHM2, ACHM3, CBNGA3, CNGB3
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
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.
Ophthalmology 117(4):825-30.e1. Epub 2010 Jan 15.PMID: 20079539 2010
11CNGA3, CNGB3
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.
Ding XQ, Harry CS, Umino Y, Matveev AV, Fliesler SJ, Barlow RB.
Hum Mol Genet 18(24):4770-80. Epub 2009 Sep 17.PMID: 19767295 2009
12ACHM3,CNGB3
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Khan NW, Wissinger B, Kohl S, Sieving PA.
Invest Ophthalmol Vis Sci 48(8):3864-71. 2007
13ACHM2, ACHM3, ACHM4, CABP4, CACNA1F, CNGA3, CNGB3, CRSD, CSNB10, CSNB1A, CSNB1B, CSNB2A, CSNB2B, ESCS, GNAT2, GRM6, NR2E3, NYX
Molecular genetics of infantile-onset retinal dystrophies.
Moradi P, Moore AT.
Eye 21(10):1344-51. 2007
14CNGA3, ACHM2, CNGB3, ACHM3, GNAT2, RCD2
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.
Hum Mutat 25(3):248-58. 2005
15CNGB3, ACHM3
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.
Eur J Hum Genet 13(3):302-8. 2005
16CNGB3, RCD3
Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.
Bright SR, Brown TE, Varnum MD.
Mol Vis 11:1141-50. 2005
17CNGB3, ACHM3
Clinical and genetic features of Hungarian achromatopsia patients.
Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A.
Mol Vis 11:996-1001. 2005
18RCD3, CNGB3
Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.
Invest Ophthalmol Vis Sci 45(6):1975-82. 2004
19CNGA3, CNGB3
Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function.
Okada A, Ueyama H, Toyoda F, Oda S, Ding WG, Tanabe S, Yamade S, Matsuura H, Ohkubo I, Kani K.
Invest Ophthalmol Vis Sci 45(7):2324-32. 2004
20ACHM3, CNGB3
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.
Peng C, Rich ED, Varnum MD.
J Biol Chem 278(36):34533-40. Epub 2003 Jun 18. 2003
21CNGA1, CNGA2, CNGA3, CNGB1, CNGB3
The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.
Zhong H, Molday LL, Molday RS, Yau KW.
Nature 420(6912):193-8. 2002
22ACHM3, CNGB3
Genetic basis of total colourblindness among the Pingelapese islanders.
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH.
Nat Genet 25(3):289-93. 2000
23CNGB3
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.
Hum Mol Genet 9(14):2107-16. 2000