Karen P. Steel

Zfp719 is a transcription factor important for maintenance of hearing in mice

The paper investigates the role of Zfp719 in hearing maintenance in mice, finding that its mutation leads to progressive hearing loss and outer hair cell degeneration.

A non-invasive test for stria vascularis dysfunction

The paper introduces a non-invasive test to distinguish stria vascularis dysfunction from other causes of hearing loss in mice, using inter-trial coherence in auditory brainstem responses.

Estrogen-related receptor gamma is required for normal auditory innervation and is essential for hearing.

This study identifies ESRRG as essential for normal auditory innervation and hearing by showing that its loss causes early-onset hearing loss and synaptic defects in mice.

Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes

This study identifies distinct genes and pathways for sensory and metabolic hearing loss using large-scale audiometric phenotyping and sex-stratified analyses.

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

This study characterizes hearing loss in mice with human MIR96 mutations and identifies a therapeutic candidate that delays hearing loss progression in heterozygous mice.

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss

Reversal of an existing hearing loss in mutant mice

This study shows that a specific type of hearing loss in mice can be reversed by reactivating the Spns2 gene within a critical period, restoring auditory function and protecting hair cells.

Investigating the Characteristics of Genes and Variants Associated with Self-Reported Hearing Difficulty in Older Adults in the UK Biobank

This study identifies genes and variants associated with self-reported hearing difficulty in older adults using UK Biobank exome sequencing data, finding that both common and rare variants contribute to age-related hearing loss, with sex-specific differences.

Collateral damage: Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

The paper identifies and characterizes spontaneous mutations causing deafness in mice from a targeted knockout program, showing these mutations are a common side effect of intensive breeding.

Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in mice.

This study shows that Caprin1 deletion in mice causes progressive hearing loss and impairs recovery from noise-induced hearing loss.

Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss

This paper identifies Klhl18 mutant mice with low-frequency progressive hearing loss due to inner hair cell dysfunction, showing abnormal stereocilia and normal outer hair cell function.

A resource of targeted mutant mouse lines for 5,061 genes

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects

This study investigates the effects of Mir183/96/182 mutations on hearing, finding that loss of these microRNAs causes deafness, while their mutations can lead to both loss and gain of function effects.