Johnson KR - Search Results

1

Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.

Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR. Longo-Guess CM, et al. Among authors: johnson kr. Mamm Genome. 2007 Sep;18(9):646-56. doi: 10.1007/s00335-007-9049-x. Epub 2007 Sep 18. Mamm Genome. 2007. PMID: 17876667 Free PMC article.

2

A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.

Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR. Longo-Guess CM, et al. Among authors: johnson kr. Proc Natl Acad Sci U S A. 2005 May 31;102(22):7894-9. doi: 10.1073/pnas.0500760102. Epub 2005 May 19. Proc Natl Acad Sci U S A. 2005. PMID: 15905332 Free PMC article.

3

The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.

Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR. Gagnon LH, et al. Among authors: johnson kr. J Neurosci. 2006 Oct 4;26(40):10188-98. doi: 10.1523/JNEUROSCI.2166-06.2006. J Neurosci. 2006. PMID: 17021174 Free PMC article.

4

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.

Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR. Longo-Guess C, et al. Among authors: johnson kr. Hear Res. 2007 Dec;234(1-2):21-8. doi: 10.1016/j.heares.2007.09.005. Epub 2007 Sep 29. Hear Res. 2007. PMID: 17967520 Free PMC article.

5

Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

Johnson KR, Longo-Guess CM, Gagnon LH. Johnson KR, et al. PLoS One. 2012;7(4):e36074. doi: 10.1371/journal.pone.0036074. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558334 Free PMC article.

6

A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice.

Johnson KR, Longo-Guess CM, Gagnon LH. Johnson KR, et al. Mamm Genome. 2015 Aug;26(7-8):338-47. doi: 10.1007/s00335-015-9574-y. Epub 2015 Jun 20. Mamm Genome. 2015. PMID: 26092689 Free PMC article.

7

A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice.

Johnson KR, Gagnon LH, Chang B. Johnson KR, et al. Mamm Genome. 2016 Jun;27(5-6):200-12. doi: 10.1007/s00335-016-9632-0. Epub 2016 Apr 18. Mamm Genome. 2016. PMID: 27090238 Free PMC article.

8

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.

Johnson KR, Gagnon LH, Webb LS, Peters LL, Hawes NL, Chang B, Zheng QY. Johnson KR, et al. Hum Mol Genet. 2003 Dec 1;12(23):3075-86. doi: 10.1093/hmg/ddg332. Epub 2003 Sep 30. Hum Mol Genet. 2003. PMID: 14519688 Free PMC article.

9

Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2.

Johnson KR, Marden CC, Ward-Bailey P, Gagnon LH, Bronson RT, Donahue LR. Johnson KR, et al. Mol Endocrinol. 2007 Jul;21(7):1593-602. doi: 10.1210/me.2007-0085. Epub 2007 Apr 17. Mol Endocrinol. 2007. PMID: 17440044

10

A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice.

Johnson KR, Longo-Guess C, Gagnon LH, Yu H, Zheng QY. Johnson KR, et al. Genomics. 2008 Oct;92(4):219-25. doi: 10.1016/j.ygeno.2008.06.007. Epub 2008 Aug 15. Genomics. 2008. PMID: 18662770 Free PMC article.

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