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Page 1
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.
CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetica …
CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major dise …
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline.
Sun W, Zhang Q. Sun W, et al. Prog Mol Biol Transl Sci. 2019;161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711023 Review.
Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress. ...Recognizing the importance of CNGA3 in inherited retinal diseases may enhance related research in searching …
Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations ha …
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 i …
The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal mo …
CNGA3 acts as a cold sensor in hypothalamic neurons.
Feketa VV, Nikolaev YA, Merriman DK, Bagriantsev SN, Gracheva EO. Feketa VV, et al. Elife. 2020 Apr 9;9:e55370. doi: 10.7554/eLife.55370. Elife. 2020. PMID: 32270761 Free PMC article.
We further show that mouse cold-sensitive neurons express the cyclic nucleotide-gated ion channel CNGA3, and that mouse, but not squirrel, CNGA3 is potentiated by cold. Our data reveal CNGA3 as a hypothalamic cold sensor and a molecular marker to interrogate …
We further show that mouse cold-sensitive neurons express the cyclic nucleotide-gated ion channel CNGA3, and that mouse, but not squi …
Achromatopsia: Genetics and Gene Therapy.
Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Michalakis S, et al. Mol Diagn Ther. 2022 Jan;26(1):51-59. doi: 10.1007/s40291-021-00565-z. Epub 2021 Dec 3. Mol Diagn Ther. 2022. PMID: 34860352 Free PMC article. Review.
The loss of cone photoreceptor function manifests at birth or early in childhood and results in decreased visual acuity, lack of color discrimination, abnormal intolerance to light (photophobia), and rapid involuntary eye movement (nystagmus). Up to 90% of patients with ACHM carr …
The loss of cone photoreceptor function manifests at birth or early in childhood and results in decreased visual acuity, lack of color discr …
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
Reuter P, Walter M, Kohl S, Weisschuh N. Reuter P, et al. Sci Rep. 2023 Feb 18;13(1):2896. doi: 10.1038/s41598-023-29452-9. Sci Rep. 2023. PMID: 36801918 Free PMC article.
Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large cohort of achromatopsia pa …
Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene …
Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders.
Pavlou M, Schön C, Occelli LM, Rossi A, Meumann N, Boyd RF, Bartoe JT, Siedlecki J, Gerhardt MJ, Babutzka S, Bogedein J, Wagner JE, Priglinger SG, Biel M, Petersen-Jones SM, Büning H, Michalakis S. Pavlou M, et al. EMBO Mol Med. 2021 Apr 9;13(4):e13392. doi: 10.15252/emmm.202013392. Epub 2021 Feb 22. EMBO Mol Med. 2021. PMID: 33616280 Free PMC article.
Importantly, both vectors efficiently transduce photoreceptors in human retinal explant cultures. As proof-of-concept, intravitreal Cnga3 delivery using AAV2.GL lead to cone-specific expression of Cnga3 protein and rescued photopic cone responses in the Cnga3 …
Importantly, both vectors efficiently transduce photoreceptors in human retinal explant cultures. As proof-of-concept, intravitreal Cnga3 …
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications for molecular diagnosis, genetic screening, and counseling, as well as for the development of new therapeutic strategies for retinal diseases …
The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications f …
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 case …
Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) a …
Achromatopsia.
Kohl S, Jägle H, Wissinger B, Zobor D. Kohl S, et al. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301591 Free Books & Documents. Review.
Identification of biallelic pathogenic (or likely pathogenic) variants in ATF6, CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H confirms the clinical diagnosis. ...
Identification of biallelic pathogenic (or likely pathogenic) variants in ATF6, CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H confirms the cli …
298 results

Searches related to "cnga3"