Associated Papers
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
Mathur PD et al.
Human Molecular Genetics, 2015
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.
Zou J et al.
Investigative Ophthalmology & Visual Science, 2011
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I et al.
Molecular Vision, 2011
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Yang J et al.
Plos Genetics, 2010
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I et al.
Human Genetics, 2007
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