Evidence map›Paper›PMID 38601016›Full record

ArticleMolecular vision2024

Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of

Yuri Seo, Kwangsic Joo, Junwon Lee, Amber Diaz, Sohyun Jang, Timothy J Cherry, Kinga M Bujakowska, Jinu Han, Se Joon Woo, Kent W Small

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. North Carolina Macular Dystrophy.Advances in experimental medicine and biology · 2025
    Review
  3. A novelMolecular vision · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 6 institutions in 2 countries.

Yuri SeoInstitute of Vision Research, Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin-si, Gyeonggi-do, South Korea.
Kwangsic JooDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Junwon LeeInstitute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Amber DiazMacula and Retina Institute, Glendale and Los Angeles, CA.
Sohyun Jang3billion Inc., Seoul, South Korea.
Timothy J CherryCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA.
Kinga M BujakowskaOcular Genomic Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA.
Jinu HanInstitute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Se Joon WooDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Kent W SmallMacula and Retina Institute, Glendale and Los Angeles, CA.
Macula and Retina Institute · USMassachusetts Eye and Ear Infirmary · USSeoul National University Bundang Hospital · KRSeattle Children's Hospital · USSeverance Hospital · KRYonsei University · KR

Funding

Non-Coding Genetic Vulnerabilities in Human Photoreceptor Function and DiseaseR01EY028584 · NEI · SEATTLE CHILDREN'S HOSPITAL · PI CHERRY, TIMOTHY JOEL · 2019 to 2025
$4.2M
Optimizing Models of Non-Coding Genetic Risk in Age-Related Macular DegenerationR01EY033364 · NEI · SEATTLE CHILDREN'S HOSPITAL · PI TIMOTHY JOEL CHERRY · 2022 to 2026
$2.5M
NEI NIH HHS R01 EY028584NEI NIH HHS R01 EY033364
6 · The paper itself

Abstract

Purpose: Pathogenic variants in North Carolina macular dystrophy (NCMD) have rarely been reported in the East Asian population. Herein, we reported novel variants of NCMD in 2 Korean families. Methods: The regions associated with NCMD were analyzed with genome sequencing, and variants were filtered based on the minor allele frequency (0.5%) and heterozygosity. Non-coding variants were functionally annotated using multiple computational tools. Results: We identified two rare novel variants, chr6:g.99,598,914T>C (hg38; V17) and chr6:g.99,598,926G>A (hg38; V18) upstream of Conclusion: We identified two novel NCMD variants in the Korean population and further validated the regulatory role of the DNase1 hypersensitivity site upstream of

Indexed as

Corneal Dystrophies, HereditaryFovea CentralisHistone-Lysine N-MethyltransferaseHumansNucleotidesPedigreeRepublic of KoreaTranscription FactorsHistone-Lysine N-MethyltransferaseNucleotidesPRDM13 protein, humanTranscription Factors

Identifiers

PMID38601016
PMCPMC11006008
OpenAlexW4394758747

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.