Publications by authors named "Akira Oka"

193 Publications

HLA-B*39:01:01 is a novel risk factor for antithyroid drug-induced agranulocytosis in Japanese population.

Pharmacogenomics J 2021 Feb 22;21(1):94-101. Epub 2020 Sep 22.

Human Genetics Laboratory, National Institute of Genetics, Mishima, Japan.

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February 2021

Development and Validation of a Japanese Version of the TRANSITION-Q.

Pediatr Int 2020 Jul 20. Epub 2020 Jul 20.

Department of Family Nursing, Division of Health Sciences and Nursing, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.

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July 2020

A cellular model of albumin endocytosis uncovers a link between membrane and nuclear proteins.

J Cell Sci 2020 Jul 6;133(13). Epub 2020 Jul 6.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.

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July 2020

Relationship between post-IVIG IgG levels and clinical outcomes in Kawasaki disease patients: new insight into the mechanism of action of IVIG.

Clin Rheumatol 2020 Dec 27;39(12):3747-3755. Epub 2020 May 27.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

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December 2020

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

J Hum Genet 2020 Oct 19;65(10):831-839. Epub 2020 May 19.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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October 2020

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.

J Neurol Sci 2020 Jul 2;414:116808. Epub 2020 Apr 2.

Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.

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July 2020

Rituximab-induced serum sickness in a 6-year-old boy with steroid-dependent nephrotic syndrome.

CEN Case Rep 2020 05 22;9(2):173-176. Epub 2020 Jan 22.

Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

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May 2020

CBFA2T3-GLIS2-positive acute megakaryoblastic leukemia in a patient with Down syndrome.

Pediatr Blood Cancer 2020 02 17;67(2):e28055. Epub 2019 Nov 17.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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February 2020

Altered Expression of Astrocyte-Related Receptors and Channels Correlates With Epileptogenesis in Hippocampal Sclerosis.

Pediatr Dev Pathol 2019 Nov-Dec;22(6):532-539. Epub 2019 Jun 5.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.

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April 2020

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Neurol Genet 2019 Apr 25;5(2):e319. Epub 2019 Mar 25.

Department of Pediatrics (Y.N., K. Hirohata, R.I., A.O.), Graduate School of Medicine, The University of Tokyo; Department of Human Genetics (K. Hamanaka, S.M., N.M.), Graduate School of Medicine, Yokohama City University; Department of Pediatrics (M.M.), School of Medicine, Teikyo University, Tokyo; and Department of Pediatrics (H.S.), Graduate School of Medicine, Osaka City University, Osaka, Japan.

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April 2019

A case of malignant rhabdoid tumor mimicking yolk sac tumor.

Pediatr Blood Cancer 2019 08 29;66(8):e27784. Epub 2019 Apr 29.

Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.

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August 2019