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

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.

American journal of ophthalmology - 1 Jan 2005

Taniguchi Yukiko, Tsujikawa Motokazu, Hibino Sawako, Tsujikawa Kaoru, Tanaka Tatsuya, Kiridoushi Akira, Tano Yasuo

Abstract excerpt

PURPOSE: To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD). DESIGN: Case report and experimental study. METHOD: A 10-year-old Japanese boy suffering from typical GDLD was studied. A 1.1-kb DNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient's cornea was also analyzed to determine which...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to DNA, Complementary

Share to Epithelial Cell Adhesion Molecule

Share to Mutation, Missense

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 15652848
DOI: 10.1016/j.ajo.2004.06.090

Genes

TACSTD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.PMID 15652848Read ↗

Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.Semantic proximity Read ↗

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.Semantic proximity Read ↗

Gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient.Semantic proximity Read ↗

A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Clinical and basic aspects of gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy.Semantic proximity Read ↗

Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.Semantic proximity Read ↗

Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

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