1 - 25 of 170 results for author:"Matsumoto N." in Literature citations
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| Physical interaction of floral organs controls petal morphogenesis in Arabidopsis. Takeda S., Iwasaki A., Matsumoto N., Uemura T., Tatematsu K., Okada K. Plant Physiol. 161:1242-1250(2013) |
| Structure and function of Zucchini endoribonuclease in piRNA biogenesis. Nishimasu H., Ishizu H., Saito K., Fukuhara S., Kamatani M.K., Bonnefond L., Matsumoto N., Nishizawa T., Nakanaga K., Aoki J. et al. |
| Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins. Qin S.Y., Hu D., Matsumoto K., Takeda K., Matsumoto N., Yamaguchi Y., Yamamoto K. J. Biol. Chem. 287:38080-38089(2012) · Mapped (8) |
| A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Tsurusaki Y., Saitoh S., Tomizawa K., Sudo A., Asahina N., Shiraishi H., Ito J.I., Tanaka H., Doi H., Saitsu H. et al. Neurogenetics 13:327-332(2012) · UniProtKB (1) |
| PAPSS2 mutations cause autosomal recessive brachyolmia. Miyake N., Elcioglu N.H., Iida A., Isguven P., Dai J., Murakami N., Takamura K., Cho T.J., Kim O.H., Hasegawa T. et al. J. Med. Genet. 49:533-538(2012) · Mapped (3) |
| CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Saitsu H., Kato M., Osaka H., Moriyama N., Horita H., Nishiyama K., Yoneda Y., Kondo Y., Tsurusaki Y., Doi H. et al. Epilepsia 53:1441-1449(2012) · Mapped (2) |
| Vasohibin induces prolyl hydroxylase-mediated degradation of hypoxia-inducible factor-1alpha in human umbilical vein endothelial cells. Kozako T., Matsumoto N., Kuramoto Y., Sakata A., Motonagare R., Aikawa A., Imoto M., Toda A., Honda S., Shimeno H. et al. FEBS Lett. 586:1067-1072(2012) · Mapped (11) |
| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Tsurusaki Y., Okamoto N., Ohashi H., Kosho T., Imai Y., Hibi-Ko Y., Kaname T., Naritomi K., Kawame H., Wakui K. et al. Nat. Genet. 44:376-378(2012) · UniProtKB (6) |
| Roles of the middle domain-specific WUSCHEL-RELATED HOMEOBOX genes in early development of leaves in Arabidopsis. Nakata M., Matsumoto N., Tsugeki R., Rikirsch E., Laux T., Okada K. Plant Cell 24:519-535(2012) · Mapped (3) |
| Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. Yoneda Y., Saitsu H., Touyama M., Makita Y., Miyamoto A., Hamada K., Kurotaki N., Tomita H., Nishiyama K., Tsurusaki Y. et al. J. Hum. Genet. 57:207-211(2012) · UniProtKB (1) · Mapped (5) |
| Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. Hamdan F.F., Saitsu H., Nishiyama K., Gauthier J., Dobrzeniecka S., Spiegelman D., Lacaille J.C., Decarie J.C., Matsumoto N., Rouleau G.A. et al. Eur. J. Hum. Genet. 20:796-800(2012) · Mapped (5) |
| De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Yoneda Y., Haginoya K., Arai H., Yamaoka S., Tsurusaki Y., Doi H., Miyake N., Yokochi K., Osaka H., Kato M. et al. Am. J. Hum. Genet. 90:86-90(2012) · UniProtKB (1) · Mapped (1) |
| Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Saitsu H., Osaka H., Sugiyama S., Kurosawa K., Mizuguchi T., Nishiyama K., Nishimura A., Tsurusaki Y., Doi H., Miyake N. et al. Am. J. Med. Genet. A 158A:199-205(2012) · UniProtKB (1) |
| Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Saitsu H., Osaka H., Sasaki M., Takanashi J., Hamada K., Yamashita A., Shibayama H., Shiina M., Kondo Y., Nishiyama K. et al. Am. J. Hum. Genet. 89:644-651(2011) · UniProtKB (2) · Mapped (8) |
| Amino acid changes in hemagglutinin contribute to the replication of oseltamivir-resistant H1N1 influenza viruses. Ginting T.E., Shinya K., Kyan Y., Makino A., Matsumoto N., Kaneda S., Kawaoka Y. |
| Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Sakai H., Suzuki S., Mizuguchi T., Imoto K., Yamashita Y., Doi H., Kikuchi M., Tsurusaki Y., Saitsu H., Miyake N. et al. Hum. Genet. 131:591-599(2012) · Mapped (28) |
| Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H., Ikeda S., Kato R., Tsurusaki Y., Miyake N. et al. Am. J. Hum. Genet. 89:320-327(2011) · UniProtKB (3) · Mapped (2) |
| A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Miyake N., Yamashita S., Kurosawa K., Miyatake S., Tsurusaki Y., Doi H., Saitsu H., Matsumoto N. Clin. Genet. 80:293-296(2011) · Mapped (4) |
| Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control of alpha1-antitrypsin. Chen Y., Hu D., Yabe R., Tateno H., Qin S.Y., Matsumoto N., Hirabayashi J., Yamamoto K. Mol. Biol. Cell 22:3559-3570(2011) · Mapped (1) |
| Succinic semialdehyde dehydrogenase is involved in the robust patterning of Arabidopsis leaves along the adaxial-abaxial axis. Toyokura K., Watanabe K., Oiwaka A., Kusano M., Tameshige T., Tatematsu K., Matsumoto N., Tsugeki R., Saito K., Okada K. Plant Cell Physiol. 52:1340-1353(2011) · Mapped (1) |
| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Hannibal M.C., Buckingham K.J., Ng S.B., Ming J.E., Beck A.E., McMillin M.J., Gildersleeve H.I., Bigham A.W., Tabor H.K., Mefford H.C. et al. Am. J. Med. Genet. A 155A:1511-1516(2011) · Mapped (5) |
| Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. Tsurusaki Y., Osaka H., Hamanoue H., Shimbo H., Tsuji M., Doi H., Saitsu H., Matsumoto N., Miyake N. J. Med. Genet. 48:606-609(2011) · Mapped (2) |
| A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. Dai J., Kim O.H., Cho T.J., Miyake N., Song H.R., Karasugi T., Sakazume S., Ikema M., Matsui Y., Nagai T. et al. J. Hum. Genet. 56:398-400(2011) · UniProtKB (1) · Mapped (1) |
| E-cadherin expression on human carcinoma cell affects trastuzumab-mediated antibody-dependent cellular cytotoxicity through killer cell lectin-like receptor G1 on natural killer cells. Yamauchi C., Fujii S., Kimura T., Kuwata T., Wada N., Mukai H., Matsumoto N., Fukayama M., Ochiai A. Int. J. Cancer 128:2125-2137(2011) · Mapped (8) |
| Ly49-dependent NK cell licensing and effector inhibition involve the same interaction site on MHC ligands. Choi T., Ferris S.T., Matsumoto N., Poursine-Laurent J., Yokoyama W.M. J. Immunol. 186:3911-3917(2011) · Mapped (78) |