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Page 1
Gene Therapy for Color Blindness.
Hassall MM, Barnard AR, MacLaren RE. Hassall MM, et al. Yale J Biol Med. 2017 Dec 19;90(4):543-551. eCollection 2017 Dec. Yale J Biol Med. 2017. PMID: 29259520 Free PMC article. Review.
The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal models of Cnga3, Cngb3, and Gnat2 have been rescued using AAV gene therapy; showing partial restoration of cone electrophysiology and integrat …
The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal mo …
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG, Bertelsen M, Grønskov K, Kohl S, Kessel L. Andersen MKG, et al. Genes (Basel). 2023 Mar 10;14(3):690. doi: 10.3390/genes14030690. Genes (Basel). 2023. PMID: 36980963 Free PMC article.
We identified variants believed to be disease causing in five of the known achromatopsia genes: CNGA3; CNGB3; GNAT2; PDE6C and PDE6H; and novel variants were identified in CNGB3 and PDE6C. Progressive deterioration of BCVA only attributable to achromatopsia was found in th …
We identified variants believed to be disease causing in five of the known achromatopsia genes: CNGA3; CNGB3; GNAT2; PDE6C and PDE6H; …
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.
Pascual-Camps I, Barranco-Gonzalez H, Aviñó-Martínez J, Silva E, Harto-Castaño M. Pascual-Camps I, et al. J Pediatr Ophthalmol Strabismus. 2018 Mar 1;55(2):85-92. doi: 10.3928/01913913-20171117-01. Epub 2017 Dec 19. J Pediatr Ophthalmol Strabismus. 2018. PMID: 29257187 Review.
It is usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia. CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6 gene mutations have been identified as associated with this disease. ...
It is usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor visual acuity, lack of color vision, and marke …
Gene therapy in color vision deficiency: a review.
El Moussawi Z, Boueiri M, Al-Haddad C. El Moussawi Z, et al. Int Ophthalmol. 2021 May;41(5):1917-1927. doi: 10.1007/s10792-021-01717-0. Epub 2021 Feb 2. Int Ophthalmol. 2021. PMID: 33528822 Review.
METHODS: A thorough literature review was performed on PubMed using the keywords: color vision deficiencies, gene therapy, achromatopsia and the various genes responsible for this condition (OPN1LW, OPN1MW, ATF6, CNGA3, CNGB3, GNAT2, PDE6H, and PDE6C). RESULTS: Various ade …
METHODS: A thorough literature review was performed on PubMed using the keywords: color vision deficiencies, gene therapy, achromatopsia and …
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. ...
To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicat …
Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H).
Shimizu-Matsumoto A, Itoh K, Inazawa J, Nishida K, Matsumoto Y, Kinoshita S, Matsubara K, Okubo K. Shimizu-Matsumoto A, et al. Genomics. 1996 Feb 15;32(1):121-4. doi: 10.1006/geno.1996.0085. Genomics. 1996. PMID: 8786098
From these results, we concluded that this clone (HGMW-approved symbol PDE6H) encodes for the gamma subunit of human cone-specific cGMP phosphodiesterase, and it was assigned to chromosome 12p13 by fluorescence in situ hybridization....
From these results, we concluded that this clone (HGMW-approved symbol PDE6H) encodes for the gamma subunit of human cone-specific cG …
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Amaral RAS, Motta FL, Zin OA, da Palma MM, Rodrigues GD, Sallum JMF. Amaral RAS, et al. Genes (Basel). 2023 Jun 20;14(6):1296. doi: 10.3390/genes14061296. Genes (Basel). 2023. PMID: 37372476 Free PMC article.
Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) and of the unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 and CNGB3 alone are responsible for most cases. ...
Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) a …
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. Kohl S, et al. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901948 Free PMC article.
Moreover, we show through immunohistochemical colocalization studies in mouse retina that Pde6h is evenly present in all retinal cone photoreceptors, a fact that had been under debate in the past. These findings add PDE6H to the set of genes involved in autosomal-re …
Moreover, we show through immunohistochemical colocalization studies in mouse retina that Pde6h is evenly present in all retinal cone …
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Mastey RR, et al. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047. Invest Ophthalmol Vis Sci. 2019. PMID: 31237654 Free PMC article.
PURPOSE: Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. ...
PURPOSE: Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is …
Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.
Brennenstuhl C, Tanimoto N, Burkard M, Wagner R, Bolz S, Trifunovic D, Kabagema-Bilan C, Paquet-Durand F, Beck SC, Huber G, Seeliger MW, Ruth P, Wissinger B, Lukowski R. Brennenstuhl C, et al. J Biol Chem. 2015 Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4. J Biol Chem. 2015. PMID: 25739440 Free PMC article.
Short wave cone function was more preserved than middle and long wave cone function indicating that some basic regulation of the PDE6 multisubunit enzyme was maintained albeit by a unknown mechanism. To study normal and disease-related functions of cone Pde6h in vivo, we g …
Short wave cone function was more preserved than middle and long wave cone function indicating that some basic regulation of the PDE6 multis …
25 results