238 related articles for article (PubMed ID: 23601474)
1. Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.
Yeh CY; Goldstein O; Kukekova AV; Holley D; Knollinger AM; Huson HJ; Pearce-Kelling SE; Acland GM; Komáromy AM
BMC Genet; 2013 Apr; 14():27. PubMed ID: 23601474
[TBL] [Abstract][Full Text] [Related]
2. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Sidjanin DJ; Lowe JK; McElwee JL; Milne BS; Phippen TM; Sargan DR; Aguirre GD; Acland GM; Ostrander EA
Hum Mol Genet; 2002 Aug; 11(16):1823-33. PubMed ID: 12140185
[TBL] [Abstract][Full Text] [Related]
3. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S; Varsanyi B; Antunes GA; Baumann B; Hoyng CB; Jägle H; Rosenberg T; Kellner U; Lorenz B; Salati R; Jurklies B; Farkas A; Andreasson S; Weleber RG; Jacobson SG; Rudolph G; Castellan C; Dollfus H; Legius E; Anastasi M; Bitoun P; Lev D; Sieving PA; Munier FL; Zrenner E; Sharpe LT; Cremers FP; Wissinger B
Eur J Hum Genet; 2005 Mar; 13(3):302-8. PubMed ID: 15657609
[TBL] [Abstract][Full Text] [Related]
4.
Häfliger IM; Marchionatti E; Stengård M; Wolf-Hofstetter S; Paris JM; Jacinto JGP; Watté C; Voelter K; Occelli LM; Komáromy AM; Oevermann A; Goepfert C; Borgo A; Roduit R; Spengeler M; Seefried FR; Drögemüller C
Int J Mol Sci; 2021 Nov; 22(22):. PubMed ID: 34830323
[TBL] [Abstract][Full Text] [Related]
5. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK; Van Cauwenbergh C; Rother C; Baumann B; Reuter P; De Baere E; Wissinger B; Kohl S;
Hum Mutat; 2017 Nov; 38(11):1579-1591. PubMed ID: 28795510
[TBL] [Abstract][Full Text] [Related]
6. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Khan NW; Wissinger B; Kohl S; Sieving PA
Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3864-71. PubMed ID: 17652762
[TBL] [Abstract][Full Text] [Related]
7. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Wiszniewski W; Lewis RA; Lupski JR
Hum Genet; 2007 May; 121(3-4):433-9. PubMed ID: 17265047
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S; Baumann B; Broghammer M; Jägle H; Sieving P; Kellner U; Spegal R; Anastasi M; Zrenner E; Sharpe LT; Wissinger B
Hum Mol Genet; 2000 Sep; 9(14):2107-16. PubMed ID: 10958649
[TBL] [Abstract][Full Text] [Related]
9. Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.
Ye GJ; Komáromy AM; Zeiss C; Calcedo R; Harman CD; Koehl KL; Stewart GA; Iwabe S; Chiodo VA; Hauswirth WW; Aguirre GD; Chulay JD
Hum Gene Ther Clin Dev; 2017 Dec; 28(4):197-207. PubMed ID: 29020838
[TBL] [Abstract][Full Text] [Related]
10. Achromatopsia in three sibling Labrador Retrievers in the UK.
Dixon CJ
Vet Ophthalmol; 2016 Jan; 19(1):68-72. PubMed ID: 25752464
[TBL] [Abstract][Full Text] [Related]
11. A genetic dissection of breed composition and performance enhancement in the Alaskan sled dog.
Huson HJ; Parker HG; Runstadler J; Ostrander EA
BMC Genet; 2010 Jul; 11():71. PubMed ID: 20649949
[TBL] [Abstract][Full Text] [Related]
12. Genetic heterogeneity of day blindness in Alaskan Malamutes.
Seddon JM; Hampson EC; Smith RI; Hughes IP
Anim Genet; 2006 Aug; 37(4):407-10. PubMed ID: 16879359
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA; Roosing S; Collin RW; van Moll-Ramirez N; van Lith-Verhoeven JJ; van Schooneveld MJ; den Hollander AI; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
Ophthalmology; 2010 Apr; 117(4):825-30.e1. PubMed ID: 20079539
[TBL] [Abstract][Full Text] [Related]
15. Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M; Aligianis IA; Ainsworth JR; Good P; Mollon JD; Maher ER; Moore AT; Hunt DM
Invest Ophthalmol Vis Sci; 2004 Jun; 45(6):1975-82. PubMed ID: 15161866
[TBL] [Abstract][Full Text] [Related]
16. Achromatopsia as a potential candidate for gene therapy.
Pang JJ; Alexander J; Lei B; Deng W; Zhang K; Li Q; Chang B; Hauswirth WW
Adv Exp Med Biol; 2010; 664():639-46. PubMed ID: 20238068
[TBL] [Abstract][Full Text] [Related]
17. Breed-specific ancestry studies and genome-wide association analysis highlight an association between the MYH9 gene and heat tolerance in Alaskan sprint racing sled dogs.
Huson HJ; vonHoldt BM; Rimbault M; Byers AM; Runstadler JA; Parker HG; Ostrander EA
Mamm Genome; 2012 Feb; 23(1-2):178-94. PubMed ID: 22105876
[TBL] [Abstract][Full Text] [Related]
18. A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.
Ahonen SJ; Arumilli M; Lohi H
PLoS One; 2013; 8(8):e72122. PubMed ID: 24015210
[TBL] [Abstract][Full Text] [Related]
19. A deep intronic substitution in
Aweidah H; Salameh M; Yahalom C; Blumenfeld A; Macarov M; Weisschuh N; Kohl S; Banin E; Sharon D
Mol Vis; 2021; 27():588-600. PubMed ID: 34703197
[TBL] [Abstract][Full Text] [Related]
20. Description of breed ancestry and genetic health traits in arctic sled dog breeds.
Thorsrud JA; Huson HJ
Canine Med Genet; 2021 Sep; 8(1):8. PubMed ID: 34544496
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
