Kimihiko Oishi, MD
- ASSISTANT PROFESSOR | Genetics and Genomic Sciences
- ASSISTANT PROFESSOR | Pediatrics
Specialties:Medical Genetics and Genomics, Pediatrics
Dr. Kimihiko Oishi is Assistant Professor of Department of Genetics and Genomic Sciences and Department of Pediatrics. He received his medical degree from Jikei University School of Medicine in Tokyo, Japan, followed by Pediatrics residency at Jikei University Hospital. After his research fellowship in Dr. Gelb’s molecular cardiology laboratory at Mount Sinai, he completed his Pediatrics residency and Medical Genetics fellowship at Mount Sinai Hospital. He joined the faculty at Mount Sinai after completing his fellowship in 2014. His current research focuses on inborn errors of metabolism and familial tumor syndromes.
He is a clinical geneticist and serves as an attending physician in Medical Genetics in the Biochemical Genetics Clinic and an attending physician in General Pediatrics for particularly for children from Japanese speaking families at the Mount Sinai Medical Center.
- Biotinidase Deficiency
- Carnitine Disorders
- Fatty Acid Oxidation Defects
- Glutaric Acidemia
- Glycogen Storage Diseases
- Intellectual Disability
- Krabbe Disease
- Maple Syrup Urine Disease
- Metabolic Encephalopathy
- Methylmalonic Acidemia
- Mitochondrial Myopathy
- Organic Acidemias
- Pompe Disease
- Propionic Acidemia
- Urea Cycle Defects
MD, Tokyo Jikekai Ikadaigaku
Residency, Pediatrics, Tokyo Jikekai Ikadaigaku
Residency, Pediatrics, Mount Sinai Hospital
Residency, Medical Genetics, Mount Sinai Hospital
Judith P. Wilner Resident Award, Medical Genetics, Icahn School of Medicine
Kurt Hirschhorn M.D. Clinician-Scientist Award, Pediatrics, Icahn School of Medicine
Young Investigator Awards, Eastern Society for Pediatric Research
The Society for Pediatric Research Fellow’s Basic Research Award
The Uehara Memorial Foundation Research Fellowship
Oishi K, Diaz G. Thiamine-Responsive Megaloblastic Anemia Syndrome in GeneReviews at GeneTests: Medical Genetics Information Resource . Database Online. 2014;.
Oishi K, Diaz G. Glycerol phenylbutyrate for the chronic management of urea cycle disorders. . Expert Rev. Endocrinol. Metab. 2014; 9(5): 427–434 .
Pagani M, Oishi K, Gelb B, Zhong Y. Spacing effect: SHP-2 phosphatase regulates resting intervals between learning trials in long-term memory induction. . Cell 2009; 139: 186-198.
Oishi K, Zhang H, Gault W, Wang C, Tan C, Kim I, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb B. LEOPARD syndrome mutations in PTPN11 have gain-of-function effects during Drosophila development. . Hum Molec Genet 2009; 18: 193-201.
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.
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.
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.
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;.