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 mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Molecular vision - 1 Jan 2012

Kawasaki Satoshi, Yamasaki Kenta, Nakagawa Hiroko, Shinomiya Katsuhiko, Nakatsukasa Mina, Nakai Yoshihide, Kinoshita Shigeru

Abstract excerpt

PURPOSE: The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. METHODS: Slit-lamp microscopy, corneal topography, and optical coherence tomography were performed for the clinical examination of the...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cornea

Share to Corneal Dystrophies, Hereditary

Share to DNA Mutational Analysis

Share to Phosphatidylinositol 3-Kinases

Share to Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 23288988
PMCID: PMC3534130

Genes

PIKFYVE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.PMID 23288988Read ↗

A novel PIKFYVE mutation in fleck corneal dystrophy.Semantic proximity Read ↗

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.Semantic proximity Read ↗

Mutations in <i>PIKFYVE</i> cause autosomal dominant congenital cataractSemantic proximity Read ↗

Disruption of PIKFYVE causes congenital cataract in human and zebrafish.Semantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.Semantic proximity Read ↗

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.Semantic proximity Read ↗

Analysis of the Posterior Polymorphous Corneal Dystrophy 3 Gene,<i>TCF8</i>, in Late-Onset Fuchs Endothelial Corneal DystrophySemantic proximity Read ↗

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.Semantic proximity Read ↗

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region.Semantic proximity Read ↗

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.Semantic proximity Read ↗

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