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181 related items for PubMed ID: 34535971

  • 1. Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.
    Liu M, Zhu Y, Huang L, Jiang W, Wu N, Song Y, Lu Y, Ma Y.
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1795. PubMed ID: 34535971
    [Abstract] [Full Text] [Related]

  • 2. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
    Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
    Ophthalmology; 2013 Nov; 120(11):2338-43. PubMed ID: 23725738
    [Abstract] [Full Text] [Related]

  • 3. A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.
    Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK.
    Ophthalmic Genet; 2021 Aug; 42(4):458-463. PubMed ID: 33960280
    [Abstract] [Full Text] [Related]

  • 4. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
    Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.
    Doc Ophthalmol; 2019 Jun; 138(3):229-239. PubMed ID: 30877594
    [Abstract] [Full Text] [Related]

  • 5. 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; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

  • 6. Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.
    Alsalloum A, Mosin I, Shefer K, Mingaleva N, Kim A, Feoktistova S, Malyugin B, Boiko E, Sultanov S, Mityaeva O, Volchkov P.
    J Clin Med; 2024 Aug 06; 13(16):. PubMed ID: 39200733
    [Abstract] [Full Text] [Related]

  • 7. Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
    Sato T, Kuniyoshi K, Hayashi T, Nishiwaki H, Mizobuchi K, Kusaka S.
    Doc Ophthalmol; 2024 Jun 06; 148(3):173-182. PubMed ID: 38630375
    [Abstract] [Full Text] [Related]

  • 8. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
    Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S.
    Hum Mutat; 2011 Dec 06; 32(12):1398-406. PubMed ID: 21882291
    [Abstract] [Full Text] [Related]

  • 9. The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations.
    Hart NS, Mountford JK, Voigt V, Fuller-Carter P, Barth M, Nerbonne JM, Hunt DM, Carvalho LS.
    eNeuro; 2019 Dec 06; 6(1):. PubMed ID: 30820446
    [Abstract] [Full Text] [Related]

  • 10. Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation.
    Alsalloum A, Mityaeva O, Kegeles E, Khavina E, Volchkov P.
    Stem Cell Res; 2023 Jun 06; 69():103099. PubMed ID: 37121194
    [Abstract] [Full Text] [Related]

  • 11. Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
    Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A.
    Eur J Ophthalmol; 2022 Jan 06; 32(1):664-672. PubMed ID: 33706576
    [Abstract] [Full Text] [Related]

  • 12. Analysis of retinal structure and function in cone dystrophy with supernormal rod response.
    Abdelkader E, Yasir ZH, Khan AM, Raddadi O, Khandekar R, Alateeq N, Nowilaty S, AlShahrani N, Schatz P.
    Doc Ophthalmol; 2020 Aug 06; 141(1):23-32. PubMed ID: 31960170
    [Abstract] [Full Text] [Related]

  • 13. The retinal clock drives the expression of Kcnv2, a channel essential for visual function and cone survival.
    Hölter P, Kunst S, Wolloscheck T, Kelleher DK, Sticht C, Wolfrum U, Spessert R.
    Invest Ophthalmol Vis Sci; 2012 Oct 05; 53(11):6947-54. PubMed ID: 22969075
    [Abstract] [Full Text] [Related]

  • 14. Natural history and biomarkers of KCNV2-associated retinopathy.
    Sakti DH, Cornish EE, Ali H, Retsas S, Raza M, Saakova N, Carvalho LS, Nash BM, Jamieson RV, Grigg JR.
    Clin Exp Ophthalmol; 2024 Jul 05; 52(5):528-544. PubMed ID: 38443311
    [Abstract] [Full Text] [Related]

  • 15. Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K+ Channel Subunits Kv8.2 and K2.1.
    Jiang X, Rashwan R, Voigt V, Nerbonne J, Hunt DM, Carvalho LS.
    Int J Mol Sci; 2021 May 05; 22(9):. PubMed ID: 34063002
    [Abstract] [Full Text] [Related]

  • 16. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.
    Am J Ophthalmol; 2008 Jun 05; 145(6):1099-106. PubMed ID: 18400204
    [Abstract] [Full Text] [Related]

  • 17. Heteromeric KV2/KV8.2 Channels Mediate Delayed Rectifier Potassium Currents in Primate Photoreceptors.
    Gayet-Primo J, Yaeger DB, Khanjian RA, Puthussery T.
    J Neurosci; 2018 Apr 04; 38(14):3414-3427. PubMed ID: 29483285
    [Abstract] [Full Text] [Related]

  • 18. Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
    Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S.
    Ophthalmic Genet; 2021 Apr 04; 42(2):144-149. PubMed ID: 33372566
    [Abstract] [Full Text] [Related]

  • 19. RETINA-specific expression of Kcnv2 is controlled by cone-rod homeobox (Crx) and neural retina leucine zipper (Nrl).
    Aslanidis A, Karlstetter M, Walczak Y, Jägle H, Langmann T.
    Adv Exp Med Biol; 2014 Apr 04; 801():31-41. PubMed ID: 24664678
    [Abstract] [Full Text] [Related]

  • 20. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
    Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR.
    Am J Hum Genet; 2006 Sep 04; 79(3):574-9. PubMed ID: 16909397
    [Abstract] [Full Text] [Related]

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