A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

doi:10.1016/s0925-4439(03)00083-8

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Article

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

Biochimica et biophysica acta - 14 Jul 2003

Gregan Juraj, Van Laer Lut, Lieto Louis D, Van Camp Guy, Kearsey Stephen E

Abstract excerpt

A mutation in human DFNA5 is associated with autosomal dominant nonsyndromic hearing impairment. The function of DFNA5 protein remains unknown and no experimental model has been described so far. Here we describe fission yeast Schizosaccharomyces pombe as a model organism for studying the function of heterologously expressed DFNA5. We have expressed wild-type as well as mutant DFNA5 alleles under control of...

Topics

Alleles
Amino Acid Sequence
Animals
Carrier Proteins
Cell Cycle Proteins
DNA Replication
Genes, Fungal
Hearing Loss, Sensorineural
Horses
Humans
Minichromosome Maintenance Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Promoter Regions, Genetic

Rats

Receptors, Estrogen

Schizosaccharomyces

Schizosaccharomyces pombe Proteins

Source

Open in PubMed

Identifiers

PMID: 12853124
DOI: 10.1016/s0925-4439(03)00083-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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