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Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.
Chen J, Ingham N, Kelly J, Jadeja S, Goulding D, Pass J, Mahajan VB, Tsang SH, Nijnik A, Jackson IJ, White JK, Forge A, Jagger D, Steel KP. Chen J, et al. Among authors: forge a. PLoS Genet. 2014 Oct 30;10(10):e1004688. doi: 10.1371/journal.pgen.1004688. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25356849 Free PMC article.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M. Bryant D, et al. Among authors: forge a. JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586. JCI Insight. 2022. PMID: 35132964 Free PMC article.
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
Morozko EL, Nishio A, Ingham NJ, Chandra R, Fitzgerald T, Martelletti E, Borck G, Wilson E, Riordan GP, Wangemann P, Forge A, Steel KP, Liddle RA, Friedman TB, Belyantseva IA. Morozko EL, et al. Among authors: forge a. Hum Mol Genet. 2015 Feb 1;24(3):609-24. doi: 10.1093/hmg/ddu474. Epub 2014 Sep 12. Hum Mol Genet. 2015. PMID: 25217574 Free PMC article.
124 results