These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

346 related articles for article (PubMed ID: 24064553)

  • 1. 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]  

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

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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. Clinical characterisation of the CABP4-related retinal phenotype.
    Khan AO; Alrashed M; Alkuraya FS
    Br J Ophthalmol; 2013 Mar; 97(3):262-5. PubMed ID: 23099293
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
    An J; Zhang L; Jiao B; Lu F; Xia F; Yu Z; Zhang Z
    Gene; 2015 May; 562(2):210-9. PubMed ID: 25748727
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
    Burtscher V; Schicker K; Novikova E; Pöhn B; Stockner T; Kugler C; Singh A; Zeitz C; Lancelot ME; Audo I; Leroy BP; Freissmuth M; Herzig S; Matthes J; Koschak A
    Biochim Biophys Acta; 2014 Aug; 1838(8):2053-65. PubMed ID: 24796500
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM; Florijn RJ; Bergen AA; van den Born LI; Kamermans M; Prick L; Riemslag FC; van Schooneveld MJ; Kappers AM; van Genderen MM
    Ophthalmology; 2013 Oct; 120(10):2072-81. PubMed ID: 23714322
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
    Hemara-Wahanui A; Berjukow S; Hope CI; Dearden PK; Wu SB; Wilson-Wheeler J; Sharp DM; Lundon-Treweek P; Clover GM; Hoda JC; Striessnig J; Marksteiner R; Hering S; Maw MA
    Proc Natl Acad Sci U S A; 2005 May; 102(21):7553-8. PubMed ID: 15897456
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.
    Haeseleer F; Imanishi Y; Maeda T; Possin DE; Maeda A; Lee A; Rieke F; Palczewski K
    Nat Neurosci; 2004 Oct; 7(10):1079-87. PubMed ID: 15452577
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.