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

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

American journal of human genetics - 2 May 2013

Tran-Viet Khanh-Nhat, Powell Caldwell, Barathi Veluchamy A, Klemm Thomas, Maurer-Stroh Sebastian, Limviphuvadh Vachiranee, Soler Vincent, Ho Candice, Yanovitch Tammy, Schneider Georg, Li Yi-Ju, Nading Erica, Metlapally Ravikanth, Saw Seang-Mei, Goh Liang, Rozen Steve, Young Terri L

Abstract excerpt

Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal detachment, and myopic maculopathy. Nonsyndro...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 22
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Copper

Share to Genes, Dominant

Share to Mitochondrial Proteins

Share to Molecular Chaperones

Share to Myopia

Source

Open in PubMed Open full text

Identifiers

PMID: 23643385
DOI: 10.1016/j.ajhg.2013.04.005
PMCID: PMC3644634

Genes

SCO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23643385-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.PMID 23643385Read ↗

Association between SCO2 mutation and extreme myopia in Japanese patients.Semantic proximity Read ↗

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.Semantic proximity Read ↗

Exome sequencing reveals CCDC111 mutation associated with high myopia.Semantic proximity Read ↗

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.Semantic proximity Read ↗

Molecular Genetics of Human Myopia: An UpdateSemantic proximity Read ↗

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.Semantic proximity Read ↗

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.Semantic proximity Read ↗

OTX2 mutation associated with severe myopia in a Canadian family.Semantic proximity Read ↗

ZC3H11A mutations cause high myopia by triggering PI3K-AKT and NF-κB mediated signaling pathway in humans and miceSemantic proximity Read ↗

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.Semantic proximity Read ↗

Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping.Semantic proximity Read ↗

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.Semantic proximity Read ↗

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