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Journal Abstract Search

199 related items for PubMed ID: 35233102

  • 1. Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.
    Zheng X, Li H, Hu Z, Su D, Yang J.
    Commun Biol; 2022 Mar 01; 5(1):190. PubMed ID: 35233102
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
    Dai G, Varnum MD.
    Am J Physiol Cell Physiol; 2013 Jul 15; 305(2):C147-59. PubMed ID: 23552282
    [Abstract] [Full Text] [Related]

  • 4. High-Throughput Ca2+ Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function.
    Jacobson MA, Jones LJ, Colussi DJ, Tanaka JC.
    ACS Chem Neurosci; 2019 Aug 21; 10(8):3662-3670. PubMed ID: 31290651
    [Abstract] [Full Text] [Related]

  • 5. 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 21; 29(10):1228-36. PubMed ID: 18521937
    [Abstract] [Full Text] [Related]

  • 6. 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 Oct 21; 10(9):e0138943. PubMed ID: 26407004
    [Abstract] [Full Text] [Related]

  • 7. 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; 2003 Sep 05; 278(36):34533-40. PubMed ID: 12815043
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 46(7):2282-90. PubMed ID: 15980212
    [Abstract] [Full Text] [Related]

  • 9. Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.
    Ma H, Thapa A, Morris LM, Michalakis S, Biel M, Frank MB, Bebak M, Ding XQ.
    Hum Mol Genet; 2013 Oct 01; 22(19):3906-19. PubMed ID: 23740940
    [Abstract] [Full Text] [Related]

  • 10. 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; 2016 Apr 15; 291(16):8721-34. PubMed ID: 26893377
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 12. Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
    Liu C, Sherpa T, Varnum MD.
    Mol Vis; 2013 Mar 15; 19():1268-81. PubMed ID: 23805033
    [Abstract] [Full Text] [Related]

  • 13. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
    Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B.
    Hum Mutat; 2010 Jul 15; 31(7):830-9. PubMed ID: 20506298
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
    Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    Jpn J Ophthalmol; 2016 May 15; 60(3):187-97. PubMed ID: 27040408
    [Abstract] [Full Text] [Related]

  • 15. 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; 2012 May 25; 287(22):18018-29. PubMed ID: 22493484
    [Abstract] [Full Text] [Related]

  • 16. A cyclic nucleotide-gated channel mutation associated with canine daylight blindness provides insight into a role for the S2 segment tri-Asp motif in channel biogenesis.
    Tanaka N, Delemotte L, Klein ML, Komáromy AM, Tanaka JC.
    PLoS One; 2014 May 25; 9(2):e88768. PubMed ID: 24586388
    [Abstract] [Full Text] [Related]

  • 17. Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.
    Schön C, Asteriti S, Koch S, Sothilingam V, Garcia Garrido M, Tanimoto N, Herms J, Seeliger MW, Cangiano L, Biel M, Michalakis S.
    Hum Mol Genet; 2016 Mar 15; 25(6):1165-75. PubMed ID: 26740549
    [Abstract] [Full Text] [Related]

  • 18. Gene replacement therapy for retinal CNG channelopathies.
    Schön C, Biel M, Michalakis S.
    Mol Genet Genomics; 2013 Oct 15; 288(10):459-67. PubMed ID: 23861024
    [Abstract] [Full Text] [Related]

  • 19. An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.
    Täger J, Kohl S, Birch DG, Wheaton DKH, Wissinger B, Reuter P.
    Exp Eye Res; 2018 Jun 15; 171():48-53. PubMed ID: 29499183
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 664():245-53. PubMed ID: 20238023
    [Abstract] [Full Text] [Related]

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