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

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.

Molecular vision - 1 Jan 2016

Yaylacioglu Tuncay Fulya, Kayman Kurekci Gülsüm, Guntekin Ergun Sezen, Pasaoglu Ozge Tugce, Akata Rustu Fikret, Dincer Pervin Rukiye

Abstract excerpt

PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were...

Read the complete abstract on PubMed

Topics

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

Share to Conserved Sequence
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Keratins

Share to Sulfates

Share to Sulfotransferases

Share to Transforming Growth Factor beta

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 27829782
PMCID: PMC5082643

Genes

CHST6
TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.PMID 27829782Read ↗

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.Semantic proximity Read ↗

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.Semantic proximity Read ↗

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.Semantic proximity Read ↗

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.Semantic proximity Read ↗

Molecular genetic analysis of macular corneal dystrophy patients from North India.Semantic proximity Read ↗

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large CohortSemantic proximity Read ↗

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.Semantic proximity Read ↗

Novel mutations in the CHST6 gene causing macular corneal dystrophy.Semantic proximity Read ↗

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.Semantic proximity Read ↗

Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.Semantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.Semantic proximity Read ↗

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