ArticleMolecular vision2019
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in
Article in Molecular vision, 2019. 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 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.
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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, 27 citations in OpenAlex.
- Two Cases ofJCEM case reports · 2026Article
- MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.BMC pediatrics · 2025Review
- Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development.PLoS genetics · 2025Article
- Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.Prenatal diagnosis · 2024Article
- Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.Scientific reports · 2023Article
- Truncation mutations in MYRF underlie primary angle closure glaucoma.Human genetics · 2023Article
- MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.Journal of clinical medicine · 2022Article
- Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.Frontiers in pediatrics · 2022Article
- Ablation of mpeg+ Macrophages Exacerbates mfrp-Related Hyperopia.Investigative ophthalmology & visual science · 2021Article
- MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.Neuroscience bulletin · 2021Article
- The LRR-TM protein PAN-1 interacts with MYRF to promote its nuclear translocation in synaptic remodeling.eLife · 2021Article
- Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.Investigative ophthalmology & visual science · 2021Article
- Crystal structure of the MyRF ICA domain with its upstream β-helical stalk reveals the molecular mechanisms underlying its trimerization and self-cleavage.International journal of biological sciences · 2021Article
- Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.Scientific reports · 2020Article
- Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.BMC ophthalmology · 2020Article
- The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.Clinical genetics · 2020Article
- The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.PLoS genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic cause of nanophthalmos and high hyperopia in an autosomal dominant kindred. Methods: A proband with short axial length, high hyperopia, and dextrocardia was subjected to exome sequencing. Human and rodent gene expression data sets were used to investigate the expression of relevant genes. Results: We identified a segregating heterozygous frameshift variant at the 3' end of the penultimate exon of Conclusions: C-terminal variants in
Indexed as
Identifiers
31700225PMC6817736W2988512844What 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.