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Similar articles for PubMed (Select 20238068)


Achromatopsia as a potential candidate for gene therapy.

Pang JJ, Alexander J, Lei B, Deng W, Zhang K, Li Q, Chang B, Hauswirth WW.

Adv Exp Med Biol. 2010;664:639-46. doi: 10.1007/978-1-4419-1399-9_73.


AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia.

Pang JJ, Deng WT, Dai X, Lei B, Everhart D, Umino Y, Li J, Zhang K, Mao S, Boye SL, Liu L, Chiodo VA, Liu X, Shi W, Tao Y, Chang B, Hauswirth WW.

PLoS One. 2012;7(4):e35250. doi: 10.1371/journal.pone.0035250. Epub 2012 Apr 11. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/29fb0ebc-b1c7-4d05-bd70-d29b10299df4.


Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.


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. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.


Restoration of cone vision in a mouse model of achromatopsia.

Alexander JJ, Umino Y, Everhart D, Chang B, Min SH, Li Q, Timmers AM, Hawes NL, Pang JJ, Barlow RB, Hauswirth WW.

Nat Med. 2007 Jun;13(6):685-7. Epub 2007 May 21.


[Gene replacement therapy in achromatopsia type 2].

Mühlfriedel R, Tanimoto N, Seeliger MW.

Klin Monbl Augenheilkd. 2014 Mar;231(3):232-40. doi: 10.1055/s-0034-1368180. Epub 2014 Mar 21. Review. German.


Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.

Chang B, Dacey MS, Hawes NL, Hitchcock PF, Milam AH, Atmaca-Sonmez P, Nusinowitz S, Heckenlively JR.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5017-21.


CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle 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. 2005 Mar;13(3):302-8.


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, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.

Hum Mol Genet. 2000 Sep 1;9(14):2107-16.


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. 2004 Jun;45(6):1975-82.


Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.

Vis Neurosci. 2006 May-Aug;23(3-4):395-402.


[Progress on study of achromatopsia and targeted gene therapy].

Dai XF, Pang JJ.

Zhonghua Yan Ke Za Zhi. 2012 Aug;48(8):755-8. Review. Chinese.


Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.

Ding XQ, Fitzgerald JB, Quiambao AB, Harry CS, Malykhina AP.

Adv Exp Med Biol. 2010;664:245-53. doi: 10.1007/978-1-4419-1399-9_28.


Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group.

Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.


Gene therapy rescues cone function in congenital achromatopsia.

Komáromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD.

Hum Mol Genet. 2010 Jul 1;19(13):2581-93. doi: 10.1093/hmg/ddq136. Epub 2010 Apr 8. Erratum in: Hum Mol Genet. 2011 Dec 15;20(24):5024.


[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].

Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.

Ophthalmologe. 2004 Aug;101(8):830-5. German.


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. 2007 Aug;48(8):3864-71.

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