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1 - 25 of 51 results for author:"Nanba E." in Literature citations

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Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H., Higaki K., Wei C.J., Bao X.H., Zhang Y.H., Fu N., Qin J., Adachi K., Kumura Y., Ninomiya H. et al.

Gene 498:332-335(2012) · Mapped (4)

Lysosomal accumulation of Trk protein in brain of GM(1) -gangliosidosis mouse and its restoration by chemical chaperone.

Takamura A., Higaki K., Ninomiya H., Takai T., Matsuda J., Iida M., Ohno K., Suzuki Y., Nanba E.

J. Neurochem. 118:399-406(2011) · Mapped (4)

Transcriptional activation of the anchoring protein SAP97 by heat shock factor (HSF)-1 stabilizes K(v) 1.5 channels in HL-1 cells.

Ting Y.K., Morikawa K., Kurata Y., Li P., Bahrudin U., Mizuta E., Kato M., Miake J., Yamamoto Y., Yoshida A. et al.

Br. J. Pharmacol. 162:1832-1842(2011) · Mapped (14)

Chemical chaperone therapy: luciferase assay for screening of beta-galactosidase mutations.

Li L., Higaki K., Ninomiya H., Luan Z., Iida M., Ogawa S., Suzuki Y., Ohno K., Nanba E.

Mol. Genet. Metab. 101:364-369(2010) · Mapped (6)

Aberrant promoter methylation and expression of the imprinted PEG3 gene in glioma.

Otsuka S., Maegawa S., Takamura A., Kamitani H., Watanabe T., Oshimura M., Nanba E.

Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci. 85:157-165(2009) · Mapped (3)

Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

Otsuka S., Sakamoto Y., Siomi H., Itakura M., Yamamoto K., Matumoto H., Sasaki T., Kato N., Nanba E.

Brain Dev. 32:110-114(2010) · Mapped (8)

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

Bahrudin U., Morisaki H., Morisaki T., Ninomiya H., Higaki K., Nanba E., Igawa O., Takashima S., Mizuta E., Miake J. et al.

J. Mol. Biol. 384:896-907(2008) · Mapped (8)

No association between the ryanodine receptor 3 gene and autism in a Japanese population.

Tochigi M., Kato C., Ohashi J., Koishi S., Kawakubo Y., Yamamoto K., Matsumoto H., Hashimoto O., Kim S.Y., Watanabe K. et al.

Psychiatry Clin. Neurosci. 62:341-344(2008) · Mapped (1)

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis.

Takamura A., Higaki K., Kajimaki K., Otsuka S., Ninomiya H., Matsuda J., Ohno K., Suzuki Y., Nanba E.

Biochem. Biophys. Res. Commun. 367:616-622(2008) · Mapped (4)

Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.

Kato C., Tochigi M., Ohashi J., Koishi S., Kawakubo Y., Yamamoto K., Matsumoto H., Hashimoto O., Kim S.Y., Watanabe K. et al.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B:1008-1012(2008) · Mapped (9)

No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.

Tochigi M., Kato C., Koishi S., Kawakubo Y., Yamamoto K., Matsumoto H., Hashimoto O., Kim S.Y., Watanabe K., Kano Y. et al.

J. Hum. Genet. 52:985-989(2007) · Mapped (11)

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.

Francks C., Maegawa S., Lauren J., Abrahams B.S., Velayos-Baeza A., Medland S.E., Colella S., Groszer M., McAuley E.Z., Caffrey T.M. et al.

Mol. Psychiatry 12:1129-1139(2007) · UniProtKB (2)

Variation analysis of beta3-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity.

Kinoshita T., Hanaki K., Nagaishi J., Kawashima Y., Adachi K., Nanba E., Kanzaki S.

Pediatr Int 49:133-137(2007) · Mapped (5)

No association between the neuronal pentraxin II gene polymorphism and autism.

Marui T., Koishi S., Funatogawa I., Yamamoto K., Matsumoto H., Hashimoto O., Ishijima M., Nanba E., Nishida H., Sugiyama T. et al.

Prog. Neuropsychopharmacol. Biol. Psychiatry 31:940-943(2007) · Mapped (1)

Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism: a case-control study.

Marui T., Funatogawa I., Koishi S., Yamamoto K., Matsumoto H., Hashimoto O., Nanba E., Nishida H., Sugiyama T., Kasai K. et al.

Brain Dev. 29:510-513(2007) · Mapped (2)

Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome.

Itaba-Matsumoto N., Maegawa S., Yamagata H., Kondo I., Oshimura M., Nanba E.

Brain Dev. 29:491-495(2007) · Mapped (3)

The TSC1 gene product hamartin interacts with NADE.

Yasui S., Tsuzaki K., Ninomiya H., Floricel F., Asano Y., Maki H., Takamura A., Nanba E., Higaki K., Ohno K.

Mol. Cell. Neurosci. 35:100-108(2007) · Mapped (5)

Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation.

Paraguison R.C., Higaki K., Yamamoto K., Matsumoto H., Sasaki T., Kato N., Nanba E.

J. Neurosci. Res. 85:479-487(2007) · Mapped (10)

Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population.

Koishi S., Yamamoto K., Matsumoto H., Koishi S., Enseki Y., Oya A., Asakura A., Aoki Y., Atsumi M., Iga T. et al.

Brain Dev. 28:257-260(2006) · Mapped (3)

Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death.

Paraguison R.C., Higaki K., Sakamoto Y., Hashimoto O., Miyake N., Matsumoto H., Yamamoto K., Sasaki T., Kato N., Nanba E.

Biochem. Biophys. Res. Commun. 336:1033-1039(2005) · Mapped (2)

No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.

Marui T., Koishi S., Funatogawa I., Yamamoto K., Matsumoto H., Hashimoto O., Nanba E., Kato C., Ishijima M., Watanabe K. et al.

Neurosci. Res. 53:91-94(2005) · Mapped (12)

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

Kawashima Y., Kanzaki S., Yang F., Kinoshita T., Hanaki K., Nagaishi J., Ohtsuka Y., Hisatome I., Ninomoya H., Nanba E. et al.

J. Clin. Endocrinol. Metab. 90:4679-4687(2005) · UniProtKB (1)

Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta.

Kobayashi D., Ieiri I., Hirota T., Takane H., Maegawa S., Kigawa J., Suzuki H., Nanba E., Oshimura M., Terakawa N. et al.

Drug Metab. Dispos. 33:94-101(2005) · Mapped (5)

Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.

Marui T., Hashimoto O., Nanba E., Kato C., Tochigi M., Umekage T., Ishijima M., Kohda K., Kato N., Sasaki T.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 131B:43-47(2004) · Mapped (10)

Developmental changes of Ni(2+) sensitivity and automaticity in Nkx2.5-positive cardiac precursor cells from murine embryonic stem cell.

Manabe K., Miake J., Sasaki N., Furuichi H., Yano S., Mizuta E., Yamamoto Y., Hoshikawa Y., Yamazaki H., Tajima F. et al.

Circ. J. 68:724-726(2004) · Mapped (3)

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