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

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.

American journal of human genetics - 9 Mar 2012

Riazuddin S Amer, Parker David S, McGlumphy Elyse J, Oh Edwin C, Iliff Benjamin W, Schmedt Thore, Jurkunas Ula, Schleif Robert, Katsanis Nicholas, Gottsch John D

Abstract excerpt

Fuchs corneal dystrophy (FCD) is a genetic disorder of the corneal endothelium and is the most common cause of corneal transplantation in the United States. Previously, we mapped a late-onset FCD locus, FCD2, on chromosome 18q. Here, we present next-generation sequencing of all coding exons in th...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Chromosomes
Share to Endothelium, Corneal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fuchs' Endothelial Dystrophy

Share to Genetic Loci

Share to Introns

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 22341973
DOI: 10.1016/j.ajhg.2012.01.013
PMCID: PMC3309196

Genes

LOXHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22341973-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.PMID 22341973Read ↗

Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.Semantic proximity Read ↗

The genetics of Fuchs’ corneal dystrophySemantic proximity Read ↗

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.Semantic proximity Read ↗

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.Semantic proximity Read ↗

Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.Semantic proximity Read ↗

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.Semantic proximity Read ↗

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.Semantic proximity Read ↗

A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32.Semantic proximity Read ↗

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.Semantic proximity Read ↗

Fuchs Corneal Dystrophy.Semantic proximity Read ↗

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophySemantic proximity Read ↗

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient CohortSemantic proximity Read ↗

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