ArticleAmerican journal of human genetics2001
CNGA3 mutations in hereditary cone photoreceptor disorders.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01648452 (A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor), which is not on this map. Cited by 138 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants With CNGB3 Achromatopsia
Who cites it
138 citing papers in PubMed, 321 citations in OpenAlex.
- Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.The Journal of biological chemistry · 2014Trial
- [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2004Trial
- Novel compound heterozygousExperimental and therapeutic medicine · 2025Article
- Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.Orphanet journal of rare diseases · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
- Clinical and genetic features ofFrontiers in medicine · 2025Article
- Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Molecular vision · 2025Review
- Promotion of endoplasmic reticulum retrotranslocation by overexpression of E3 ubiquitin-protein ligase synoviolin 1 reduces endoplasmic reticulum stress and preserves cone photoreceptors in cyclic nucleotide-gated channel deficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Gene Therapy for Achromatopsia.International journal of molecular sciences · 2024Review
- S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Achromatopsia: Long term visual performance and clinical characteristics.European journal of ophthalmology · 2024Article
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.Molecular syndromology · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- Case Report: NovelFrontiers in genetics · 2024Article
- Intact high-level visual functions in congenital rod-monochromacy.Frontiers in neuroscience · 2024Article
- Unlocking cellular traffic jams: olive oil-mediated rescue of CNG mutant channels.Frontiers in pharmacology · 2024Article
- Structural basis of properties, mechanisms, and channelopathy of cyclic nucleotide-gated channels.Channels (Austin, Tex.) · 2023Review
- cGMP Signaling in Photoreceptor Degeneration.International journal of molecular sciences · 2023Review
78 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 12 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy. In total, mutations were identified in 53 independent families comprising 38 new CNGA3 mutations, in addition to the 8 mutations reported elsewhere. Apparently, both mutant alleles were identified in 47 families, including 16 families with presumed homozygous mutations and 31 families with two heterozygous mutations. Single heterozygous mutations were identified in six additional families. The majority of all known CNGA3 mutations (39/46) are amino acid substitutions compared with only four stop-codon mutations, two 1-bp insertions and one 3-bp in-frame deletion. The missense mutations mostly affect amino acids conserved among the members of the cyclic nucleotide gated (CNG) channel family and cluster at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Several mutations were identified recurrently (e.g., R277C, R283W, R436W, and F547L). These four mutations account for 41.8% of all detected mutant CNGA3 alleles. Haplotype analysis suggests that the R436W and F547L mutant alleles have multiple origins, whereas we found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.