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Results: 1 to 20 of 103

1.

[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.

PMID:
23141518
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
20238068
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
21576125
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
20454696
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
22509403
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Progress in gene therapy study of Leber congenital amaurosis].

Pan SS, Zheng QX, Li WS, Pang JJ.

Zhonghua Yan Ke Za Zhi. 2011 Jan;47(1):83-7. Review. Chinese.

PMID:
21418933
[PubMed - indexed for MEDLINE]
7.

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. 2005 Mar;25(3):248-58.

PMID:
15712225
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
20378608
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
17515894
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Gene replacement therapy for retinal CNG channelopathies.

Schön C, Biel M, Michalakis S.

Mol Genet Genomics. 2013 Oct;288(10):459-67. doi: 10.1007/s00438-013-0766-4. Epub 2013 Jul 17. Review.

PMID:
23861024
[PubMed - indexed for MEDLINE]
11.

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Wiszniewski W, Lewis RA, Lupski JR.

Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.

PMID:
17265047
[PubMed - indexed for MEDLINE]
12.

Prospects for retinal cone-targeted gene therapy.

Alexander JJ, Hauswirth WW.

Drug News Perspect. 2008 Jun;21(5):267-71. doi: 10.1358/dnp.2008.21.5.1219012.

PMID:
18596991
[PubMed - indexed for MEDLINE]
13.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L.

J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25.

PMID:
21107338
[PubMed - indexed for MEDLINE]
14.

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. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.

PMID:
20079539
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
16961972
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
15657609
[PubMed - indexed for MEDLINE]
Free Article
17.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Ahuja Y, Kohl S, Traboulsi EI.

Mol Vis. 2008 Jul 10;14:1293-7.

PMID:
18636117
[PubMed - indexed for MEDLINE]
Free PMC Article
18.
19.

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER.

J Med Genet. 2002 Sep;39(9):656-60.

PMID:
12205108
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
10958649
[PubMed - indexed for MEDLINE]
Free Article

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