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Kimihiko Oishi

  • ASSISTANT PROFESSOR (PENDING) Genetics and Genomic Sciences
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Clinical Focus


  • MD, Tokyo Jikekai Ikadaigaku

  • Residency, Pediatrics
    Tokyo Jikekai Ikadaigaku

  • Residency, Pediatrics
    Mount Sinai Hospital

  • Residency, Medical Genetics
    Mount Sinai Hospital


Tan CC, Veetil S, Li SD, Nishio H, Stoller JZ, Oishi K, Puttreddy S, Lee TJ, Epstein JA, Walsh MJ, Gelb BD. Transcription Factor Ap2d Associates with Ash2l and ALR, a Trithorax Family Histone Methyltransferase, to Activate Hoxc8 Transcription . Proc. Natl. Acad. Sci;.

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, 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. Gain-of- function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genet 2007; 39: 1007-1012.

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. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genet 2007; 39: 75-79.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome-causing PTPN11 gain-of-function mutations. Hum. Mol. Genet 2006; 15(4): 543-553.

Davies JP, Scott C, Oishi K, Liapis A, Ioannou YA, . Inactivation of NPC1L1 causes multiple lipid transport defect and protect against diet-induced hypercholesterolemia. J. Biol. Chem 2005; 280(13): 12710-12720.

Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA, . 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. Dev. Biol 2004; 266: 299-309.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness, and megaloblastosis in mice. Hum. Mol. Genet 2002; 11(23): 2951-2960.

Oishi K, Hirai T, Gelb BD, Diaz GA, . Slc19a2: Cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. Mol. Genet. Metab 2001; 73(2): 149-159.

Diaz G, Banikazemi M, Oishi K, Desnick R. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999 Jul; 22(3): 309-12.

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Dr. Oishi has not yet completed reporting of Industry relationships.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website at Patients may wish to ask their physician about the activities they perform for companies.

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