ArticlePloS one2014
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- SPARCL1 sparkles new insight into corneal dystrophies.European journal of human genetics : EJHG · 2024Article
- Petal-shaped corneal pattern in a patient with posterior amorphous corneal dystrophy.American journal of ophthalmology case reports · 2024Article
- Epiphycan Predicts Poor Outcomes and Promotes Metastasis in Ovarian Cancer.Frontiers in oncology · 2021Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
- The role of extracellular matrix in mouse and human corneal neovascularization.Scientific reports · 2019Article
- Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.Ophthalmic genetics · 2018Article
- Long intergenic non-coding RNA GALMD3 in chicken Marek's disease.Scientific reports · 2017Article
- Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Investigative ophthalmology & visual science · 2017Article
- Small leucine-rich repeat proteoglycans in corneal inflammation and wound healing.Experimental eye research · 2016Review
- Transcriptomic Analysis of Cultured Corneal Endothelial Cells as a Validation for Their Use in Cell Replacement Therapy.Cell transplantation · 2016Article
- Regulation of corneal stroma extracellular matrix assembly.Experimental eye research · 2015Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and qPCR were used to detect a hemizygous deletion in the PACD linkage interval containing 4 genes encoding small leucine-rich proteoglycans (SLRPs): KERA, LUM, DCN, and EPYC. Two other unrelated families with PACD also demonstrated deletion of these SLRPs, which play important roles in collagen fibrillogenesis and matrix assembly. Given that these genes are essential to the maintenance of corneal clarity and the observation that knockout murine models display corneal phenotypic similarities to PACD, we provide convincing evidence that PACD is associated with haploinsufficiency of these SLRPs.
Indexed as
Identifiers
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.