ArticleMolecular genetics & genomic medicine2017
Structural modeling of a novel
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 26 citations in OpenAlex.
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Investigative ophthalmology & visual science · 2022Article
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.Investigative ophthalmology & visual science · 2021Article
- Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.Journal of human genetics · 2021Article
- Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.Blood cells, molecules & diseases · 2021Article
- Novel Biallelic Variants and Phenotypic Features in Patients withInternational journal of molecular sciences · 2021Article
- SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.Human molecular genetics · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.Genetics research · 2019Article
- VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.Investigative ophthalmology & visual science · 2019Article
- Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.Orphanet journal of rare diseases · 2018Article
- Gene Therapy Restores Mfrp and Corrects Axial Eye Length.Scientific reports · 2017Article
- Foveal hypoplasia and optical coherence tomographic imaging.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundFoveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture.
methodsFundus autofluorescence, SD-OCT, and OCT-angiography were used to make the clinical diagnosis. Whole-exome sequencing led to the identification of a novel disease-causing variant in
resultsWe identified a novel point mutation in
conclusionOur results demonstrate a novel use for OCT-angiography in confirming FH, and also uncover genotype-phenotype correlations of FH-linked
Indexed as
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What 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.