Kimihiko Oishi

发表

Glycerol phenylbutyrate for the chronic management of urea cycle disorders

G. Diaz, K. Oishi, Kimihiko Oishi, 2014, Expert review of endocrinology & metabolism.

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

T. Konuma, E. Imagawa, V. Misra, 2023, Journal of Human Genetics.

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.

B. Gelb, M. Barchi, G. Diaz, 2004, Developmental biology.

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

D. Forrest, B. Gelb, H. Vlassara, 2002, Human molecular genetics.

Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.

K. Oishi, P. Prasun, Ilona Ginevic, 2021, Translational gastroenterology and hepatology.

Transcription factor Ap2δ associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription

J. Epstein, B. Gelb, M. Walsh, 2008, Proceedings of the National Academy of Sciences.

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

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

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

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

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

B. Gelb, M. Tartaglia, K. Oishi, 2009, Human molecular genetics.

Inactivation of NPC1L1 Causes Multiple Lipid Transport Defects and Protects against Diet-induced Hypercholesterolemia*

Y. Ioannou, K. Oishi, C. Scott, 2005, Journal of Biological Chemistry.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Golder N Wilson, Vikki Stefans, Wendy K. Chung, 2017, Cold Spring Harbor molecular case studies.

Thiamine-Responsive Megaloblastic Anemia Syndrome: Clinical Aspects and Molecular Genetics

B. Gelb, G. Diaz, K. Oishi, 2003 .

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

B. Gelb, G. Diaz, K. Oishi, 2001, Molecular genetics and metabolism.

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management

R. Arnon, G. Diaz, K. Oishi, 2016, Pediatric transplantation.

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

G. Diaz, K. Oishi, E. Imagawa, 2020, Molecular genetics and metabolism reports.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

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

L. Pick, B. Gelb, M. Tartaglia, 2006, Human molecular genetics.

The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

Bruce D. Gelb, B. Gelb, Y. Zhong, 2009, Cell.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

J. Vockley, S. Wortmann, T. Derks, 2020, Genetics in Medicine.

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

B. Gelb, R. Desnick, G. Diaz, 1999, Nature Genetics.

Knowledge and attitudes on pharmacogenetics among pediatricians

S. Scott, V. Funanage, H. Naik, 2020, Journal of Human Genetics.

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia

R. Arnon, K. Oishi, S. Florman, 2020, Nutrients.