Oishi K - Search Results

1

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: oishi k. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483

2

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Diaz GA, et al. Among authors: oishi k. Nat Genet. 1999 Jul;22(3):309-12. doi: 10.1038/10385. Nat Genet. 1999. PMID: 10391223

3

Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

Oishi K, Hirai T, Gelb BD, Diaz GA. Oishi K, et al. Mol Genet Metab. 2001 Jun;73(2):149-59. doi: 10.1006/mgme.2001.3184. Mol Genet Metab. 2001. PMID: 11386850

4

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Oishi K, et al. Hum Mol Genet. 2002 Nov 1;11(23):2951-60. doi: 10.1093/hmg/11.23.2951. Hum Mol Genet. 2002. PMID: 12393806

5

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Oishi K, et al. Dev Biol. 2004 Feb 15;266(2):299-309. doi: 10.1016/j.ydbio.2003.10.026. Dev Biol. 2004. PMID: 14738878 Free article.

6

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Oishi K, et al. Hum Mol Genet. 2006 Feb 15;15(4):543-53. doi: 10.1093/hmg/ddi471. Epub 2006 Jan 6. Hum Mol Genet. 2006. PMID: 16399795

7

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Among authors: oishi k. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

8

Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.

Tan CC, Sindhu KV, Li S, Nishio H, Stoller JZ, Oishi K, Puttreddy S, Lee TJ, Epstein JA, Walsh MJ, Gelb BD. Tan CC, et al. Among authors: oishi k. Proc Natl Acad Sci U S A. 2008 May 27;105(21):7472-7. doi: 10.1073/pnas.0711896105. Epub 2008 May 21. Proc Natl Acad Sci U S A. 2008. PMID: 18495928 Free PMC article.

9

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD. Oishi K, et al. Hum Mol Genet. 2009 Jan 1;18(1):193-201. doi: 10.1093/hmg/ddn336. Epub 2008 Oct 11. Hum Mol Genet. 2009. PMID: 18849586 Free PMC article.

10

The phosphatase SHP2 regulates the spacing effect for long-term memory induction.

Pagani MR, Oishi K, Gelb BD, Zhong Y. Pagani MR, et al. Among authors: oishi k. Cell. 2009 Oct 2;139(1):186-98. doi: 10.1016/j.cell.2009.08.033. Cell. 2009. PMID: 19804763 Free PMC article.

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