S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse

@inproceedings{Ingham2016S1PR2VA,
  title={S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse},
  author={Neil J. Ingham and Francesca A. Carlisle and Selina A Pearson and Morag A. Lewis and Annalisa Buniello and Jing Chen and Rivka L Isaacson and Johanna C. Pass and Jacqueline K. White and Sally J Dawson and Karen P. Steel},
  booktitle={Scientific reports},
  year={2016}
}
Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and exome sequencing revealed a Thr289Arg substitution in Sphingosine-1-Phosphate Receptor-2 (S1pr2). Mutants aged 2 weeks had normal hearing sensitivity, but at 4 weeks most showed variable degrees of hearing impairment, which became severe or profound in all… CONTINUE READING

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