ArticleMolecular vision2017
Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Spectral-Domain Optical Coherence Tomography Morphological Characteristics in Patients with Cone Dysfunction Disorders: A Retrospective Case Series.Clinical ophthalmology (Auckland, N.Z.) · 2026Article
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Human molecular genetics · 2024Article
- Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina.Cellular and molecular life sciences : CMLS · 2023Article
- cGMP Signaling in Photoreceptor Degeneration.International journal of molecular sciences · 2023Review
- A NovelInternational journal of molecular sciences · 2021Article
- Impaired CaInternational journal of molecular sciences · 2021Article
- Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by CaBiomolecules · 2020Article
- Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.American journal of ophthalmology · 2020Article
- Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1.Movement disorders clinical practice · 2020Article
- Cone Dystrophies: An Optical Coherence Tomography Angiography Study.Journal of clinical medicine · 2020Article
- Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.JAMA ophthalmology · 2020Article
- Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition.International journal of molecular sciences · 2020Article
- Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.Frontiers in neuroscience · 2020Review
- Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.Scientific reports · 2019Article
- Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.Scientific reports · 2019Article
- Functional characterization of a novelMolecular vision · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSixteen different mutations in the guanylate cyclase activator 1A gene (
methodsClinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings.
resultsWe found two novel
conclusionsThe two novel mutations described in this study are associated with distinct phenotypes, MD for p.Val101del and COD for p.Asp148Glu, with no intrafamilial phenotypic heterogeneity.
Indexed as
Identifiers
28442884PMC5389339W2686233863What OpenQuestion holds
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.