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

Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.

Molecular vision - 2 Sept 2005

Aldave Anthony J, Rayner Sylvia A, Principe Alexandre H, Affeldt John A, Katsev Douglas, Yellore Vivek S

Abstract excerpt

PURPOSE: To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients. METHODS: Mutation screening of fifteen genes (CORT, CLSTN1, CTNNBIP1, DFFA, ENO1, GPR157, H6PD, KIF1B, LOC440559, LZIC, MGC4399, PEX14, PGD, PIK3CD, and SSB1) that lie within the candidate gene region for SCCD was performed in members of two families...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Opacity

Share to Corneal Stroma

Share to DNA Mutational Analysis

Share to Eye Proteins

Share to Genetic Markers

Share to Pedigree

Source

Identifiers

PMID: 16163269

Genes

CLSTN1
CORT
CTNNBIP1
DFFA
ENO1
LZIC
PEX14
PGD

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

Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.PMID 16163269Read ↗

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Fine mapping of the Schnyder's crystalline corneal dystrophy locus.Semantic proximity Read ↗

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.Semantic proximity Read ↗

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionSemantic proximity Read ↗

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.Semantic proximity Read ↗

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.Semantic proximity Read ↗

[Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].Semantic proximity Read ↗

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

Functional study of SCCD pathogenic gene UBIAD1 (Review).Semantic proximity Read ↗

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