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Journal Abstract Search

228 related items for PubMed ID: 15459792

  • 21. Novel CNGA3 mutations in Chinese patients with achromatopsia.
    Liang X, Dong F, Li H, Li H, Yang L, Sui R.
    Br J Ophthalmol; 2015 Apr; 99(4):571-6. PubMed ID: 25637600
    [Abstract] [Full Text] [Related]

  • 22. Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
    Amaral RAS, Motta FL, Zin OA, da Palma MM, Rodrigues GD, Sallum JMF.
    Genes (Basel); 2023 Jun 20; 14(6):. PubMed ID: 37372476
    [Abstract] [Full Text] [Related]

  • 23. 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 Jun 20; 664():245-53. PubMed ID: 20238023
    [Abstract] [Full Text] [Related]

  • 24. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
    Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.
    Nat Genet; 1998 Jul 20; 19(3):257-9. PubMed ID: 9662398
    [Abstract] [Full Text] [Related]

  • 25. Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
    Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P.
    J Clin Invest; 2018 Dec 03; 128(12):5663-5675. PubMed ID: 30418171
    [Abstract] [Full Text] [Related]

  • 26. A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
    Hassall MM, Barnard AR, Orlans HO, McClements ME, Charbel Issa P, Aslam SA, MacLaren RE.
    Invest Ophthalmol Vis Sci; 2018 Dec 03; 59(15):6102-6110. PubMed ID: 30592498
    [Abstract] [Full Text] [Related]

  • 27. Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
    Patel KA, Bartoli KM, Fandino RA, Ngatchou AN, Woch G, Carey J, Tanaka JC.
    Invest Ophthalmol Vis Sci; 2005 Jul 03; 46(7):2282-90. PubMed ID: 15980212
    [Abstract] [Full Text] [Related]

  • 28. Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
    Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR.
    Mol Vis; 2014 Jul 03; 20():1732-9. PubMed ID: 25558176
    [Abstract] [Full Text] [Related]

  • 29. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
    Jinda W, Tuekprakhon A, Thongnoppakhun W, Limwongse C, Trinavarat A, Atchaneeyasakul LO.
    Int Ophthalmol; 2021 Jan 03; 41(1):121-134. PubMed ID: 32869108
    [Abstract] [Full Text] [Related]

  • 30. 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 03; 56(1):22-8. PubMed ID: 21107338
    [Abstract] [Full Text] [Related]

  • 31. Molecular basis of an inherited form of incomplete achromatopsia.
    Tränkner D, Jägle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B.
    J Neurosci; 2004 Jan 07; 24(1):138-47. PubMed ID: 14715947
    [Abstract] [Full Text] [Related]

  • 32. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
    Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S, ACHM Study Group.
    Hum Mutat; 2017 Nov 07; 38(11):1579-1591. PubMed ID: 28795510
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 9(14):2107-16. PubMed ID: 10958649
    [Abstract] [Full Text] [Related]

  • 34. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 01; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 35. 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 Jun 01; 664():639-46. PubMed ID: 20238068
    [Abstract] [Full Text] [Related]

  • 36. Gene therapy in color vision deficiency: a review.
    El Moussawi Z, Boueiri M, Al-Haddad C.
    Int Ophthalmol; 2021 May 01; 41(5):1917-1927. PubMed ID: 33528822
    [Abstract] [Full Text] [Related]

  • 37. Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice.
    Matveev AV, Quiambao AB, Browning Fitzgerald J, Ding XQ.
    J Neurochem; 2008 Sep 01; 106(5):2042-55. PubMed ID: 18665891
    [Abstract] [Full Text] [Related]

  • 38. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb 01; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

  • 39. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
    Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE.
    PLoS One; 2015 Feb 01; 10(9):e0138943. PubMed ID: 26407004
    [Abstract] [Full Text] [Related]

  • 40. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
    Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL.
    Ophthalmic Genet; 2013 Sep 01; 34(3):119-29. PubMed ID: 23362848
    [Abstract] [Full Text] [Related]

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