ArticleAmerican journal of human genetics2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Pooled it
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Genetic Analysis ofBiomedicines · 2025Article
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.Japanese journal of ophthalmology · 2024Article
- Peroxidasin is required for full viability in development and for maintenance of tissue mechanics in adults.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- PXDN as a pan-cancer biomarker and promotes tumor progress via immune inhibition in nasopharyngeal carcinoma.Frontiers in oncology · 2024Article
- Association of body mass index andHeliyon · 2023Article
- Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Mammalian peroxidasin (PXDN): From physiology to pathology.Free radical biology & medicine · 2022Review
- A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.Journal of diabetes investigation · 2022Article
- Deficiency of the bZIP transcription factors Mafg and Mafk causes misexpression of genes in distinct pathways and results in lens embryonic developmental defects.Frontiers in cell and developmental biology · 2022Article
- Peroxidasin Deficiency Re-programs Macrophages Toward Pro-fibrolysis Function and Promotes Collagen Resolution in Liver.Cellular and molecular gastroenterology and hepatology · 2022Article
- Characterization of the Proprotein Convertase-Mediated Processing of Peroxidasin and Peroxidasin-like Protein.Antioxidants (Basel, Switzerland) · 2021Article
- Peroxidasin mediates bromination of tyrosine residues in the extracellular matrix.The Journal of biological chemistry · 2020Article
- Peroxidasin-mediated bromine enrichment of basement membranes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Role of Extracellular Matrix in Pathophysiology of Patent Ductus Arteriosus: Emphasis on Vascular Remodeling.International journal of molecular sciences · 2020Review
- Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.European journal of human genetics : EJHG · 2020Article
Corrections and comments
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Authors and funding
29 authors at 8 institutions in 4 countries.
Funding
Abstract
Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage.
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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.