BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 29179637)

  • 1. Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
    Waldner DM; Giraldo Sierra NC; Bonfield S; Nguyen L; Dimopoulos IS; Sauvé Y; Stell WK; Bech-Hansen NT
    Channels (Austin); 2018 Jan; 12(1):17-33. PubMed ID: 29179637
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
    Liu X; Kerov V; Haeseleer F; Majumder A; Artemyev N; Baker SA; Lee A
    Channels (Austin); 2013; 7(6):514-23. PubMed ID: 24064553
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
    Michalakis S; Shaltiel L; Sothilingam V; Koch S; Schludi V; Krause S; Zeitz C; Audo I; Lancelot ME; Hamel C; Meunier I; Preising MN; Friedburg C; Lorenz B; Zabouri N; Haverkamp S; Garcia Garrido M; Tanimoto N; Seeliger MW; Biel M; Wahl-Schott CA
    Hum Mol Genet; 2014 Mar; 23(6):1538-50. PubMed ID: 24163243
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
    Regus-Leidig H; Atorf J; Feigenspan A; Kremers J; Maw MA; Brandstätter JH
    PLoS One; 2014; 9(1):e86769. PubMed ID: 24466230
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
    Kondo M; Das G; Imai R; Santana E; Nakashita T; Imawaka M; Ueda K; Ohtsuka H; Sakai K; Aihara T; Kato K; Sugimoto M; Ueno S; Nishizawa Y; Aguirre GD; Miyadera K
    PLoS One; 2015; 10(9):e0137072. PubMed ID: 26368928
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Transgenic Expression of
    Waldner DM; Ito K; Chen LL; Nguyen L; Chow RL; Lee A; Rancourt DE; Tremblay F; Stell WK; Bech-Hansen NT
    Transl Vis Sci Technol; 2020 Oct; 9(11):19. PubMed ID: 33117610
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Keeping the balance.
    Tom Dieck S
    Channels (Austin); 2013; 7(6):418-9. PubMed ID: 24722264
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
    Lodha N; Bonfield S; Orton NC; Doering CJ; McRory JE; Mema SC; Rehak R; Sauvé Y; Tobias R; Stell WK; Bech-Hansen NT
    Adv Exp Med Biol; 2010; 664():549-58. PubMed ID: 20238058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
    Knoflach D; Kerov V; Sartori SB; Obermair GJ; Schmuckermair C; Liu X; Sothilingam V; Garcia Garrido M; Baker SA; Glösmann M; Schicker K; Seeliger M; Lee A; Koschak A
    Channels (Austin); 2013; 7(6):503-13. PubMed ID: 24051672
    [TBL] [Abstract][Full Text] [Related]  

  • 10. LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
    Neuillé M; Cao Y; Caplette R; Guerrero-Given D; Thomas C; Kamasawa N; Sahel JA; Hamel CP; Audo I; Picaud S; Martemyanov KA; Zeitz C
    Invest Ophthalmol Vis Sci; 2017 Mar; 58(3):1768-1778. PubMed ID: 28334377
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.
    Dinet V; Ciccotosto GD; Delaunay K; Borras C; Ranchon-Cole I; Kostic C; Savoldelli M; El Sanharawi M; Jonet L; Pirou C; An N; Abitbol M; Arsenijevic Y; Behar-Cohen F; Cappai R; Mascarelli F
    Mol Brain; 2016 Jun; 9(1):64. PubMed ID: 27267879
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.
    Knoflach D; Schicker K; Glösmann M; Koschak A
    Channels (Austin); 2015; 9(5):298-306. PubMed ID: 26274509
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cav1.4 dysfunction and congenital stationary night blindness type 2.
    Koschak A; Fernandez-Quintero ML; Heigl T; Ruzza M; Seitter H; Zanetti L
    Pflugers Arch; 2021 Sep; 473(9):1437-1454. PubMed ID: 34212239
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A; Wright T; Day MA; Westall CA; Héon E
    Mol Vis; 2011; 17():3262-70. PubMed ID: 22194652
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Visual signal pathway reorganization in the Cacna1f mutant rat model.
    Tao Y; Chen T; Liu B; Xue JH; Zhang L; Xia F; Pang JJ; Zhang ZM
    Invest Ophthalmol Vis Sci; 2013 Mar; 54(3):1988-97. PubMed ID: 23425697
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
    Jia S; Muto A; Orisme W; Henson HE; Parupalli C; Ju B; Baier H; Taylor MR
    Hum Mol Genet; 2014 Jun; 23(11):2981-94. PubMed ID: 24419318
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
    Rashwan R; Hunt DM; Carvalho LS
    Pflugers Arch; 2021 Sep; 473(9):1455-1468. PubMed ID: 34255151
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of
    Wyględowska-Promieńska D; Świerczyńska M; Śpiewak D; Pojda-Wilczek D; Tronina A; Dorecka M; Smędowski A
    Int J Mol Sci; 2024 Mar; 25(5):. PubMed ID: 38474172
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
    Chang B; Heckenlively JR; Bayley PR; Brecha NC; Davisson MT; Hawes NL; Hirano AA; Hurd RE; Ikeda A; Johnson BA; McCall MA; Morgans CW; Nusinowitz S; Peachey NS; Rice DS; Vessey KA; Gregg RG
    Vis Neurosci; 2006; 23(1):11-24. PubMed ID: 16597347
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An Ashkenazi Jewish founder mutation in
    Kimchi A; Meiner V; Silverstein S; Macarov M; Mor-Shaked H; Blumenfeld A; Audo I; Zeitz C; Mechoulam H; Banin E; Sharon D; Yahalom C
    Ophthalmic Genet; 2019 Oct; 40(5):443-448. PubMed ID: 31651202
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.