Saigoh K - Search Results

1

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH. Padiath QS, et al. Among authors: saigoh k. Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951681

2

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.

Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH. Xu Y, et al. Among authors: saigoh n, saigoh k. Nature. 2005 Mar 31;434(7033):640-4. doi: 10.1038/nature03453. Nature. 2005. PMID: 15800623

3

A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.

Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptáček LJ, Fu YH. Zhang L, et al. Among authors: saigoh n, saigoh k. Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):E1536-44. doi: 10.1073/pnas.1600039113. Epub 2016 Feb 22. Proc Natl Acad Sci U S A. 2016. PMID: 26903630 Free PMC article.

4

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice.

Saigoh K, Wang YL, Suh JG, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Wakana S, Kikuchi T, Wada K. Saigoh K, et al. Nat Genet. 1999 Sep;23(1):47-51. doi: 10.1038/12647. Nat Genet. 1999. PMID: 10471497

5

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.

Saigoh K, Izumikawa T, Koike T, Shimizu J, Kitagawa H, Kusunoki S. Saigoh K, et al. J Hum Genet. 2011 Feb;56(2):143-6. doi: 10.1038/jhg.2010.148. Epub 2010 Dec 16. J Hum Genet. 2011. PMID: 21160489

6

Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.

Sakamoto H, Akamatsu M, Hirano M, Saigoh K, Ueno S, Isono C, Kusunoki S, Nakamura Y. Sakamoto H, et al. Among authors: saigoh k. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):312-4. doi: 10.3109/21678421.2013.873051. Epub 2014 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24611504

7

YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes.

Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S, Wada K. Wang Y, et al. Among authors: saigoh k. Genomics. 2000 Jun 15;66(3):333-6. doi: 10.1006/geno.2000.6221. Genomics. 2000. PMID: 10873389

8

An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice.

Suh JG, Ichihara N, Saigoh K, Nakabayashi O, Yamanishi T, Tanaka K, Wada K, Kikuchi T. Suh JG, et al. Among authors: saigoh k. Neuroscience. 1997 Aug;79(3):735-44. doi: 10.1016/s0306-4522(96)00692-6. Neuroscience. 1997. PMID: 9219937

9

The stereo-specific effect of D-serine ethylester and the D-cycloserine in ataxic mutant mice.

Saigoh K, Matsui K, Takahashi K, Nishikawa T, Wada K. Saigoh K, et al. Brain Res. 1998 Oct 12;808(1):42-7. doi: 10.1016/s0006-8993(98)00810-5. Brain Res. 1998. PMID: 9795125

10

A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.

Izumikawa T, Saigoh K, Shimizu J, Tsuji S, Kusunoki S, Kitagawa H. Izumikawa T, et al. Among authors: saigoh k. Biochim Biophys Acta. 2013 Oct;1830(10):4806-12. doi: 10.1016/j.bbagen.2013.06.017. Epub 2013 Jun 27. Biochim Biophys Acta. 2013. PMID: 23811343

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