Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Genes - 20 Jun 2023

Amaral Rebeca A S, Motta Fabiana L, Zin Olivia A, da Palma Mariana M, Rodrigues Gabriela D, Sallum Juliana M F

Abstract excerpt

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. 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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brazil
Share to Color Vision Defects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide-Gated Cation Channels

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37372476
DOI: 10.3390/genes14061296
PMCID: PMC10298554

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.PMID 37372476Read ↗

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Semantic proximity Read ↗

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.Semantic proximity Read ↗

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.Semantic proximity Read ↗

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Semantic proximity Read ↗

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.Semantic proximity Read ↗

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Semantic proximity Read ↗

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.Semantic proximity Read ↗

Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.Semantic proximity Read ↗

Achromatopsia: Genetics and Gene Therapy.Semantic proximity Read ↗

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.