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

Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.

Molecular vision - 1 Jan 2026

Zhu Di, Zheng Yuxi, Jiang Yi, Guo Dongwei, Wang Yingwei, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Hejtmancik J Fielding, Zhang Qingjiong

Abstract excerpt

Purpose: Inherited diseases characterized by abnormal corneal morphology include cornea plana, megalocornea, keratoconus and brittle cornea syndrome. This study aims to investigate genes responsible for these diseases. Methods: Variants in genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome were analyzed and characterized by multistep bioinformatics approach based on three...

Read the complete abstract on PubMed

Topics

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

Share to Cornea
Share to Ehlers-Danlos Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Eye Diseases, Hereditary

Share to Joint Instability

Share to Keratoconus

Share to Proteoglycans

Share to Skin Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 41953647
PMCID: PMC13056008

Genes

VSX1
KERA
CHRDL1
PRDM5
TUBA3D
ZNF469

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.PMID 41953647Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeSemantic proximity Read ↗

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.Semantic proximity Read ↗

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.Semantic proximity Read ↗

Identification of candidate genes for keratoconus by trio-based whole-exome sequencing in 81 families from Northwest China.Semantic proximity Read ↗

A Cohort-Based Genetic Analysis of Keratoconus in Turkey Reveals a Substantial Proportion of Novel Variants and Suggests Possible Oligogenic Contributions to Keratoconus.Semantic proximity Read ↗

Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2 : A Case Report.Semantic proximity Read ↗

Clinical and molecular characterization of a family with autosomal recessive cornea plana.Semantic proximity Read ↗

A novel KERA mutation associated with autosomal recessive cornea plana.Semantic proximity Read ↗

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.Semantic proximity Read ↗

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.Semantic proximity Read ↗

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read ↗

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