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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: gillespie pg. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
Harmonin mutations cause mechanotransduction defects in cochlear hair cells.
Grillet N, Xiong W, Reynolds A, Kazmierczak P, Sato T, Lillo C, Dumont RA, Hintermann E, Sczaniecka A, Schwander M, Williams D, Kachar B, Gillespie PG, Müller U. Grillet N, et al. Among authors: gillespie pg. Neuron. 2009 May 14;62(3):375-87. doi: 10.1016/j.neuron.2009.04.006. Neuron. 2009. PMID: 19447093 Free PMC article.
Cadherin 23 is a component of the tip link in hair-cell stereocilia.
Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Müller U. Siemens J, et al. Among authors: gillespie pg. Nature. 2004 Apr 29;428(6986):950-5. doi: 10.1038/nature02483. Epub 2004 Mar 31. Nature. 2004. PMID: 15057245 Free article.
Hair-cell mechanotransduction and cochlear amplification.
LeMasurier M, Gillespie PG. LeMasurier M, et al. Among authors: gillespie pg. Neuron. 2005 Nov 3;48(3):403-15. doi: 10.1016/j.neuron.2005.10.017. Neuron. 2005. PMID: 16269359 Free article. Review.
Na+ influx triggers bleb formation on inner hair cells.
Shi X, Gillespie PG, Nuttall AL. Shi X, et al. Among authors: gillespie pg. Am J Physiol Cell Physiol. 2005 Jun;288(6):C1332-41. doi: 10.1152/ajpcell.00522.2004. Epub 2005 Feb 2. Am J Physiol Cell Physiol. 2005. PMID: 15689412 Free article.
Twist-off purification of hair bundles.
Shin JB, Pagana J, Gillespie PG. Shin JB, et al. Among authors: gillespie pg. Methods Mol Biol. 2009;493:241-55. doi: 10.1007/978-1-59745-523-7_14. Methods Mol Biol. 2009. PMID: 18839351
Unraveling cadherin 23's role in development and mechanotransduction.
Shin JB, Gillespie PG. Shin JB, et al. Among authors: gillespie pg. Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):4959-60. doi: 10.1073/pnas.0902008106. Epub 2009 Mar 25. Proc Natl Acad Sci U S A. 2009. PMID: 19321743 Free PMC article. Review. No abstract available.
82 results