Inoue K - Search Results

1

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Yu LH, Goto Y, Wegner M, Lupski JR. Inoue K, et al. Among authors: inoue na. Hum Mol Genet. 2007 Dec 15;16(24):3037-46. doi: 10.1093/hmg/ddm262. Epub 2007 Sep 13. Hum Mol Genet. 2007. PMID: 17855451

2

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Inoue K, et al. Nat Genet. 2004 Apr;36(4):361-9. doi: 10.1038/ng1322. Epub 2004 Mar 7. Nat Genet. 2004. PMID: 15004559

3

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: inoue k. Am J Hum Genet. 2005 Nov;77(5):841-50. doi: 10.1086/497541. Epub 2005 Sep 30. Am J Hum Genet. 2005. PMID: 16252242 Free PMC article.

4

Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.

Yu LH, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K. Yu LH, et al. Among authors: inoue k, inoue n. Mol Genet Metab. 2012 May;106(1):108-14. doi: 10.1016/j.ymgme.2012.02.016. Epub 2012 Mar 3. Mol Genet Metab. 2012. PMID: 22436581

5

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. Gotoh L, et al. Among authors: inoue k. Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16. Mol Genet Metab. 2014. PMID: 24374284 Free PMC article.

6

Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.

Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Ohkubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T, Inoue K. Ito Y, et al. Among authors: inoue yu, inoue k, inoue t, inoue n. Neurobiol Dis. 2015 Aug;80:1-14. doi: 10.1016/j.nbd.2015.04.013. Epub 2015 May 7. Neurobiol Dis. 2015. PMID: 25959061

7

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

Khajavi M, Inoue K, Lupski JR. Khajavi M, et al. Among authors: inoue k. Eur J Hum Genet. 2006 Oct;14(10):1074-81. doi: 10.1038/sj.ejhg.5201649. Epub 2006 Jun 7. Eur J Hum Genet. 2006. PMID: 16757948 Review.

8

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Lee JA, et al. Among authors: inoue k. Hum Mol Genet. 2006 Jul 15;15(14):2250-65. doi: 10.1093/hmg/ddl150. Epub 2006 Jun 14. Hum Mol Genet. 2006. PMID: 16774974

9

Molecular mechanisms for genomic disorders.

Inoue K, Lupski JR. Inoue K, et al. Annu Rev Genomics Hum Genet. 2002;3:199-242. doi: 10.1146/annurev.genom.3.032802.120023. Epub 2002 Apr 15. Annu Rev Genomics Hum Genet. 2002. PMID: 12142364 Review.

10

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Inoue K, et al. Ann Neurol. 2002 Dec;52(6):836-42. doi: 10.1002/ana.10404. Ann Neurol. 2002. PMID: 12447940

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