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Items: 1 to 20 of 55

1.

Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.

Liu C, Sherpa T, Varnum MD.

Mol Vis. 2013 Jun 11;19:1268-81. Print 2013.

2.

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.

3.

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.

PMID:
17652762
4.
5.

Genetic heterogeneity of day blindness in Alaskan Malamutes.

Seddon JM, Hampson EC, Smith RI, Hughes IP.

Anim Genet. 2006 Aug;37(4):407-10.

PMID:
16879359
6.
7.

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.

8.

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. 2004 Jul;45(7):2324-32.

PMID:
15223812
9.

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.

PMID:
15161866
11.
12.

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA.

Hum Mol Genet. 2002 Aug 1;11(16):1823-33.

13.

Homozygosity mapping of the Achromatopsia locus in the Pingelapese.

Winick JD, Blundell ML, Galke BL, Salam AA, Leal SM, Karayiorgou M.

Am J Hum Genet. 1999 Jun;64(6):1679-85.

14.

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR.

Am J Hum Genet. 1992 Apr;50(4):690-9.

15.

Biochemical characterization of cone cyclic nucleotide-gated (CNG) channel using the infrared fluorescence detection system.

Ding XQ, Matveev A, Singh A, Komori N, Matsumoto H.

Adv Exp Med Biol. 2012;723:769-75. doi: 10.1007/978-1-4614-0631-0_98. No abstract available.

16.

Sensory transduction channel subunits, tax-4 and tax-2, modify presynaptic molecular architecture in C. elegans.

Hellman AB, Shen K.

PLoS One. 2011;6(9):e24562. doi: 10.1371/journal.pone.0024562. Epub 2011 Sep 7.

17.

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.

18.

RDS in cones does not interact with the beta subunit of the cyclic nucleotide gated channel.

Conley SM, Ding XQ, Naash MI.

Adv Exp Med Biol. 2010;664:63-70. doi: 10.1007/978-1-4419-1399-9_8.

19.

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
20.

Bidirectional temperature-sensing by a single thermosensory neuron in C. elegans.

Ramot D, MacInnis BL, Goodman MB.

Nat Neurosci. 2008 Aug;11(8):908-15. doi: 10.1038/nn.2157.

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