ArticleGenes2018
Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma.
Article in Genes, 2018. 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 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.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis.Scientific reports · 2024Article
- A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.Indian journal of ophthalmology · 2023Article
- Aqueous Humor TGF-β2 and Its Association With Intraocular Pressure in a Naturally Occurring Large Animal Model of Glaucoma.Investigative ophthalmology & visual science · 2023Article
- Digenic Inheritance in Juvenile Open-Angle Glaucoma.Journal of pediatric genetics · 2023Article
- Distribution ofMolecular vision · 2023Article
- Genetics and Glaucoma: the state of the art.Frontiers in medicine · 2023Review
- Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.Molecular vision · 2023Article
- Fibrillin-1 mutant mouse captures defining features of human primary open glaucoma including anomalous aqueous humor TGF beta-2.Scientific reports · 2022Article
- Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma.Global medical genetics · 2022Article
- Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.Indian journal of ophthalmology · 2021Article
- GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans.Nature communications · 2021Article
- Prediction of driver variants in the cancer genome via machine learning methodologies.Briefings in bioinformatics · 2021Review
- Coinheritance ofWorld journal of clinical cases · 2021Article
- Juvenile-onset open-angle glaucoma - A clinical and genetic update.Survey of ophthalmologyReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Juvenile open angle glaucoma (JOAG), which is an uncommon form of primary open angle glaucoma, is a clinically and genetically heterogeneous disorder. We report on a family with a recessively inherited form of JOAG. The proband has a superior and an inferior never fiber layer thinning in both the eyes and the nasal visual field (VF) defects in the left eye, which are clinical findings consistent with glaucomatous optic neuropathy. Whole exome sequencing revealed two novel compound heterozygous variants [c.2966C>G, p.(Pro989Arg); c.5235T>G, p.(Asn1745Lys)] in latent transforming growth factor-beta-binding protein 2 (
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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.