Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

METTL23 Variants and Patients With Normal-Tension Glaucoma.

JAMA ophthalmology - 1 Nov 2024

Scheetz Todd E, Tollefson Mallory R, Roos Ben R, Boese Erin A, Pouw Andrew E, Stone Edwin M, Schnieders Michael J, Fingert John H

Abstract excerpt

Importance: This research confirms and further establishes that pathogenic variants in a fourth gene, METTL23, are associated with autosomal dominant normal-tension glaucoma (NTG). Objective: To determine the frequency of glaucoma-causing pathogenic variants in the METTL23 gene in a cohort of patients with NTG from Iowa. Design, Setting, and Participants: This case-control study took place at a single tertiary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Case-Control Studies
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TBK1 gene

Share to Intraocular Pressure

Share to Methyltransferases

Share to Mutation

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 39325437
DOI: 10.1001/jamaophthalmol.2024.3829
PMCID: PMC11428026

Genes

METTL23
MYOC
OPTN
TBK1
TANK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

METTL23 Variants and Patients With Normal-Tension Glaucoma.PMID 39325437Read ↗

Molecular genetics of inherited normal tension glaucoma.Semantic proximity Read ↗

Genome-wide multi-ethnic meta-analysis identifies 22 independent risk loci for normal tension glaucoma and predominantly overlaps with high tension glaucoma.Semantic proximity Read ↗

Familial normal tension glaucoma genetics.Semantic proximity Read ↗

METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma.Semantic proximity Read ↗

Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing.Semantic proximity Read ↗

Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.Semantic proximity Read ↗

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.Semantic proximity Read ↗

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.Semantic proximity Read ↗

Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.Semantic proximity Read ↗

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variantsSemantic proximity Read ↗

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.Semantic proximity Read ↗

Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork CellsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.