177 related articles for article (PubMed ID: 8673138)
1. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
Dryja TP; Hahn LB; Reboul T; Arnaud B
Nat Genet; 1996 Jul; 13(3):358-60. PubMed ID: 8673138
[TBL] [Abstract][Full Text] [Related]
2. Rod and cone function in the Nougaret form of stationary night blindness.
Sandberg MA; Pawlyk BS; Dan J; Arnaud B; Dryja TP; Berson EL
Arch Ophthalmol; 1998 Jul; 116(7):867-72. PubMed ID: 9682699
[TBL] [Abstract][Full Text] [Related]
3. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V; Kreienkamp HJ; Rosenberg T; Gal A
Hum Mutat; 2007 Jul; 28(7):741-2. PubMed ID: 17584859
[TBL] [Abstract][Full Text] [Related]
4. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T; Hosono K; Kurata K; Katagiri S; Mizobuchi K; Ueno S; Kondo M; Nakano T; Hotta Y
Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
[TBL] [Abstract][Full Text] [Related]
5. Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.
Gal A; Xu S; Piczenik Y; Eiberg H; Duvigneau C; Schwinger E; Rosenberg T
Hum Mol Genet; 1994 Feb; 3(2):323-5. PubMed ID: 8004102
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
Dryja TP
Am J Ophthalmol; 2000 Nov; 130(5):547-63. PubMed ID: 11078833
[TBL] [Abstract][Full Text] [Related]
7. Phototransduction in a transgenic mouse model of Nougaret night blindness.
Moussaif M; Rubin WW; Kerov V; Reh R; Chen D; Lem J; Chen CK; Hurley JB; Burns ME; Artemyev NO
J Neurosci; 2006 Jun; 26(25):6863-72. PubMed ID: 16793893
[TBL] [Abstract][Full Text] [Related]
8. Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness.
Muradov KG; Artemyev NO
J Biol Chem; 2000 Mar; 275(10):6969-74. PubMed ID: 10702259
[TBL] [Abstract][Full Text] [Related]
9. A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G; Cheguru P; Majumder A; Bocquet B; Sénéchal A; Artemyev NO; Hamel CP; Brabet P
PLoS One; 2014; 9(4):e95768. PubMed ID: 24760071
[TBL] [Abstract][Full Text] [Related]
10. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.
Piña AL; Baumert U; Loyer M; Koenekoop RK
Mol Vis; 2004 Apr; 10():265-71. PubMed ID: 15094710
[TBL] [Abstract][Full Text] [Related]
11. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
Dryja TP; Berson EL; Rao VR; Oprian DD
Nat Genet; 1993 Jul; 4(3):280-3. PubMed ID: 8358437
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
al-Jandal N; Farrar GJ; Kiang AS; Humphries MM; Bannon N; Findlay JB; Humphries P; Kenna PF
Hum Mutat; 1999; 13(1):75-81. PubMed ID: 9888392
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A; Orth U; Baehr W; Schwinger E; Rosenberg T
Nat Genet; 1994 May; 7(1):64-8. PubMed ID: 8075643
[TBL] [Abstract][Full Text] [Related]
14. Characterization of rhodopsin congenital night blindness mutant T94I.
Gross AK; Rao VR; Oprian DD
Biochemistry; 2003 Feb; 42(7):2009-15. PubMed ID: 12590588
[TBL] [Abstract][Full Text] [Related]
15. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Yamamoto S; Sippel KC; Berson EL; Dryja TP
Nat Genet; 1997 Feb; 15(2):175-8. PubMed ID: 9020843
[TBL] [Abstract][Full Text] [Related]
16. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A; Orth U; Baehr W; Schwinger E; Rosenberg T
Nat Genet; 1994 Aug; 7(4):551. PubMed ID: 7951329
[No Abstract] [Full Text] [Related]
17. Constitutive opsin signaling: night blindness or retinal degeneration?
Lem J; Fain GL
Trends Mol Med; 2004 Apr; 10(4):150-7. PubMed ID: 15059605
[TBL] [Abstract][Full Text] [Related]
18. Novel homozygous in-frame deletion of
Kubota D; Oishi N; Gocho K; Kikuchi S; Yamaki K; Igarashi T; Takahashi H; Ishida N; Iwata T; Mizota A; Kameya S
Ophthalmic Genet; 2019 Oct; 40(5):480-487. PubMed ID: 31696758
[No Abstract] [Full Text] [Related]
19. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
Rao VR; Cohen GB; Oprian DD
Nature; 1994 Feb; 367(6464):639-42. PubMed ID: 8107847
[TBL] [Abstract][Full Text] [Related]
20. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
Tsang SH; Woodruff ML; Jun L; Mahajan V; Yamashita CK; Pedersen R; Lin CS; Goff SP; Rosenberg T; Larsen M; Farber DB; Nusinowitz S
Hum Mutat; 2007 Mar; 28(3):243-54. PubMed ID: 17044014
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
