115 related articles for article (PubMed ID: 15094710)
1. 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]
2. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
Aligianis IA; Forshew T; Johnson S; Michaelides M; Johnson CA; Trembath RC; Hunt DM; Moore AT; Maher ER
J Med Genet; 2002 Sep; 39(9):656-60. PubMed ID: 12205108
[TBL] [Abstract][Full Text] [Related]
3. 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; 25(3):248-58. PubMed ID: 15712225
[TBL] [Abstract][Full Text] [Related]
4. A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype.
Jobling AI; Vessey KA; Waugh M; Mills SA; Fletcher EL
Invest Ophthalmol Vis Sci; 2013 May; 54(5):3350-9. PubMed ID: 23580486
[TBL] [Abstract][Full Text] [Related]
5. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.
Chang B; Dacey MS; Hawes NL; Hitchcock PF; Milam AH; Atmaca-Sonmez P; Nusinowitz S; Heckenlively JR
Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):5017-21. PubMed ID: 17065522
[TBL] [Abstract][Full Text] [Related]
6. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
7. Canine rod transducin alpha-1: cloning of the cDNA and evaluation of the gene as a candidate for progressive retinal atrophy.
Ray K; Baldwin VJ; Zeiss C; Acland GM; Aguirre GD
Curr Eye Res; 1997 Jan; 16(1):71-7. PubMed ID: 9043826
[TBL] [Abstract][Full Text] [Related]
8. Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease.
Magovcevic I; Weremowicz S; Morton CC; Fong SL; Berson EL; Dryja TP
Genomics; 1995 Jan; 25(1):288-90. PubMed ID: 7774932
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Kohl S; Baumann B; Rosenberg T; Kellner U; Lorenz B; Vadalà M; Jacobson SG; Wissinger B
Am J Hum Genet; 2002 Aug; 71(2):422-5. PubMed ID: 12077706
[TBL] [Abstract][Full Text] [Related]
10. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
Piri N; Gao YQ; Danciger M; Mendoza E; Fishman GA; Farber DB
Ophthalmology; 2005 Jan; 112(1):159-66. PubMed ID: 15629837
[TBL] [Abstract][Full Text] [Related]
11. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
Khaliq S; Hameed A; Ismail M; Anwar K; Leroy BP; Mehdi SQ; Payne AM; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3709-12. PubMed ID: 11053266
[TBL] [Abstract][Full Text] [Related]
12. A CAT reporter construct containing 277bp GNAT2 promoter and 214bp IRBP enhancer is specifically expressed by cone photoreceptor cells in transgenic mice.
Ying S; Fong SL; Fong WB; Kao CW; Converse RL; Kao WW
Curr Eye Res; 1998 Aug; 17(8):777-82. PubMed ID: 9723991
[TBL] [Abstract][Full Text] [Related]
13. Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.
Gerber S; Rozet JM; Bonneau D; Souied E; Weissenbach J; Frezal J; Munnich A; Kaplan J
Hum Genet; 1995 Apr; 95(4):382-4. PubMed ID: 7705831
[TBL] [Abstract][Full Text] [Related]
14. A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I; Dupps WJ; Grassi MA; Brown J; Affatigato LM; Roychowdhury N; Yang L; Filipek S; Palczewski K; Stone EM; Baehr W
Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1124-32. PubMed ID: 15790869
[TBL] [Abstract][Full Text] [Related]
15. Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
Gao YQ; Danciger M; Ozgul RK; Gribanova Y; Jacobson S; Farber DB
Mol Vis; 2007 Feb; 13():287-92. PubMed ID: 17356515
[TBL] [Abstract][Full Text] [Related]
16. Canine cone transducin-gamma gene and cone degeneration in the cd dog.
Akhmedov NB; Piriev NI; Pearce-Kelling S; Acland GM; Aguirre GD; Farber DB
Invest Ophthalmol Vis Sci; 1998 Sep; 39(10):1775-81. PubMed ID: 9727399
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog.
Petersen-Jones SM; Entz DD; Sargan DR
Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1637-44. PubMed ID: 10393029
[TBL] [Abstract][Full Text] [Related]
19. Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).
Morris TA; Fong SL
Genomics; 1993 Aug; 17(2):442-8. PubMed ID: 8406495
[TBL] [Abstract][Full Text] [Related]
20. Structure and analysis of the transducin beta3-subunit gene, a candidate for inherited cone degeneration (cd) in the dog.
Akhmedov NB; Piriev NI; Ray K; Acland GM; Aguirre GD; Farber DB
Gene; 1997 Jul; 194(1):47-56. PubMed ID: 9266671
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
