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T. Taketani · SciRah

Researcher profile · Semantic Scholar

T. Taketani

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T. Taketani — researcher profile on SciRah

h-index: 32
Works: 156
Citations: 3,299

Most-cited papers

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Naoaki Shibata, Y. Hasegawa, Kenji Yamada, Hironori Kobayashi +14 more
2018Molecular Genetics and Metabolism Reports122 citations Open access
Semantic Scholar
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency
Kenji Yamada, T. Taketani
2018Journal of Human Genetics88 citations
Semantic Scholar
Clinical and genetic aspects of hypophosphatasia in Japanese patients
T. Taketani, K. Onigata, Hironori Kobayashi, Yuichi Mushimoto +2 more
2013Archives of Disease in Childhood85 citations
Semantic Scholar
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
S. Yamaguchi, Hong Li, J. Purevsuren, Kenji Yamada +8 more
2012Molecular Genetics and Metabolism55 citations
Semantic Scholar
Extracellular Vesicles and Cx43-Gap Junction Channels Are the Main Routes for Mitochondrial Transfer from Ultra-Purified Mesenchymal Stem Cells, RECs
Jia-Hao Yang, Lu Liu, Y. Oda, Keisuke Wada +8 more
2023International Journal of Molecular Sciences47 citations Open access
Semantic Scholar
Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells with Bone Marrow Transplantation Improved Osteogenesis in Infants with Severe Hypophosphatasia
T. Taketani, Chigusa Oyama, A. Mihara, Yuka Tanabe +17 more
2015Cell Transplantation45 citations Open access
Semantic Scholar
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
N. Kanazawa, H. Hemmi, N. Kinjo, Hidenori Ohnishi +28 more
2021Nature Communications41 citations Open access
Semantic Scholar
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia
J. Mine, T. Taketani, K. Yoshida, F. Yokochi +13 more
2015Developmental Medicine & Child Neurology41 citations Open access
Semantic Scholar
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Kenji Yamada, Hironori Kobayashi, Ryosuke Bo, Tomoo Takahashi +16 more
2016Brain & development (Tokyo. 1979)38 citations
Semantic Scholar
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
Molly Stapleton, F. Kubaski, R. W. Mason, H. Shintaku +8 more
2020Molecular Genetics and Metabolism Reports37 citations Open access
Semantic Scholar
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
S. Kataoka, N. Kawashima, Y. Okuno, H. Muramatsu +21 more
2021Journal of Allergy and Clinical Immunology35 citations Open access
Semantic Scholar
High frequencies of simultaneous FLT3-ITD, WT1 and KIT mutations in hematological malignancies with NUP98-fusion genes
T. Taketani, T. Taki, T. Nakamura, Y. Kobayashi +4 more
2010Leukemia35 citations Open access
Semantic Scholar
Neurological Symptoms of Hypophosphatasia.
T. Taketani
2015Sub-cellular biochemistry33 citations
Semantic Scholar
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Yuichi Mushimoto, S. Fukuda, Y. Hasegawa, Hironori Kobayashi +4 more
2011Molecular Genetics and Metabolism32 citations
Semantic Scholar
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases
Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Purevsuren Jamiyan +8 more
2017Journal of Human Genetics29 citations
Semantic Scholar
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Kenji Yamada, Michinori Ito, Hironori Kobayashi, Y. Hasegawa +3 more
2019Brain & development (Tokyo. 1979)25 citations
Semantic Scholar
Highly-purified rapidly expanding clones, RECs, are superior for functional-mitochondrial transfer
Jia-Hao Yang, Lu Liu, Y. Oda, K. Wada +7 more
2023Stem cell research & therapeutics24 citations Open access
Semantic Scholar
Genomic analysis–integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway
Yuan-Yuan Li, M. Ohira, Yong Zhou, T. Xiong +16 more
2017OncoTarget24 citations Open access
Semantic Scholar
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
R. Okawa, Kazuma Kokomoto, T. Kitaoka, T. Kubota +5 more
2019PLoS ONE23 citations Open access
Semantic Scholar
Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications
Ryojun Takeda, Tomomi Yamaguchi, S. Hayashi, S. Sano +6 more
2022American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Internal tandem duplication mutations in FLT3 gene augment chemotaxis to Cxcl12 protein by blocking the down-regulation of Rho-associated kinase via the Cxcl12/Cxcr4 signaling axis.
Chie Onishi, Satomi Mori-Kimachi, T. Hirade, Mariko Abe +6 more
2014Journal of Biological Chemistry19 citations Open access
Semantic Scholar
Internal Tandem Duplication Mutations in FLT3 Gene Augment Chemotaxis to Cxcl12 Protein by Blocking the Down-regulation of the Rho-associated Kinase via the Cxcl12/Cxcr4 Signaling Axis*
Chie Onish, Satomi Mori-Kimachi, T. Hirade, Mariko Abe +6 more
2014Journal of Biological Chemistry18 citations Open access
Semantic Scholar
Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient
Y. Katsube, N. Kotobuki, M. Tadokoro, Rie Kanai +3 more
2010Gene Therapy18 citations
Semantic Scholar
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Kenji Yamada, Hironori Kobayashi, Ryosuke Bo, J. Purevsuren +6 more
2017Brain & development (Tokyo. 1979)17 citations
Semantic Scholar
Internal tandem duplication of FLT3 deregulates proliferation and differentiation and confers resistance to the FLT3 inhibitor AC220 by Up-regulating RUNX1 expression in hematopoietic cells
T. Hirade, Mariko Abe, Chie Onishi, T. Taketani +2 more
2015International journal of hematology16 citations
Semantic Scholar
Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21Cdkn1a and Pbx1 in Hematopoietic Cells
Mariko Abe, L. Pelus, Pratibha Singh, T. Hirade +5 more
2016PLoS ONE15 citations Open access
Semantic Scholar
Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life‐threatening events
Tomoo Takahashi, Kenji Yamada, Hironori Kobayashi, Y. Hasegawa +3 more
2015Pediatrics International14 citations
Semantic Scholar
A Case With Sacrococcygeal Primitive Myxoid Mesenchymal Tumor of Infancy: A Case Report and Review of the Literature
Atsuro Saito, T. Taketani, Rie Kanai, Tsutomu Kanagawa +5 more
2013Journal of pediatric hematology/oncology14 citations
Semantic Scholar
Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
Nivethitha Arunkumar, D. Vũ, Shaukat A. Khan, Hironori Kobayashi +11 more
2021Diagnostics13 citations Open access
Semantic Scholar
The feasibility of Gazefinder under 12 months of age infants
Shuntaro Fukushima, Tomoo Takahashi, Kazuki Tsukamoto, Misaki Matsumura +5 more
2021Scientific Reports13 citations Open access
Semantic Scholar
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
Kenji Yamada, K. Yokoyama, K. Aoki, T. Taketani +1 more
2020International Journal of Neonatal Screening13 citations Open access
Semantic Scholar
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy
K. Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda +9 more
2017Clinical Pediatric Endocrinology13 citations Open access
Semantic Scholar
Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory
Yuna Sasaki, Takahiro Yamada, Shiro Tanaka, A. Sekizawa +75 more
2021The journal of obstetrics and gynaecology research12 citations
Semantic Scholar
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers
Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Y. Hasegawa +3 more
2019Molecular Genetics and Metabolism Reports12 citations Open access
Semantic Scholar
Prevalence of common aneuploidy in twin pregnancies
A. Konishi, O. Samura, J. Muromoto, Yoko Okamoto +56 more
2022Journal of Human Genetics11 citations Open access
Semantic Scholar
Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan
K. Sakaguchi, T. Imamura, S. Ishimaru, C. Imai +18 more
2020Pediatric Blood & Cancer11 citations Open access
Semantic Scholar
Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan
Koichi Moriwaki, A. Manabe, T. Taketani, A. Kikuchi +2 more
2014International journal of hematology11 citations
Semantic Scholar
Simple and rapid detection of HLA-A*31:01 for prediction of carbamazepine-induced hypersensitivity using loop-mediated isothermal amplification method.
H. Niihara, K. Kohno, T. Taketani, S. Kaneko +9 more
2014Journal of dermatological science (Amsterdam)11 citations
Semantic Scholar
Childhood acute myeloid leukemia with bone marrow eosinophilia caused by t(16;21)(q24;q22)
N. Kawashima, A. Shimada, T. Taketani, Y. Hayashi +5 more
2012International journal of hematology11 citations
Semantic Scholar
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby
Kenji Yamada, K. Matsubara, Yuko Matsubara, Asami Watanabe +9 more
2019JIMD Reports10 citations Open access
Semantic Scholar
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Y. Hasegawa +4 more
2017Molecular Genetics and Metabolism Reports10 citations Open access
Semantic Scholar
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Yoshimitsu Osawa, Hironori Kobayashi, G. Tajima, K. Hara +13 more
2022Molecular Genetics and Metabolism9 citations Open access
Semantic Scholar
A 14-year-old girl with hyperekplexia having GLRB mutations.
J. Mine, T. Taketani, Shusuke Otsubo, Kazuko Kishi +1 more
2013Brain & development (Tokyo. 1979)9 citations
Semantic Scholar
Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
Jun-Hui Yuan, Xiao-Yang Cheng, E. Matsuura, Y. Higuchi +15 more
2023Journal of the peripheral nervous system8 citations Open access
Semantic Scholar
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype
Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo +4 more
2022Molecular Genetics and Metabolism Reports8 citations Open access
Semantic Scholar
Single nucleotide polymorphisms of the DGKB and VCAM1 genes are associated with granulocyte colony stimulating factor-mediated peripheral blood stem cell mobilization.
S. Mishima, Chikashi Matsuda, Tomoko Ishihara, Mayumi Nagase +2 more
2017Transfusion and Apheresis Science8 citations
Semantic Scholar
Startles, Stiffness, and SLC6A5: Do You Know the Condition?
A. Saini, T. Taketani, J. Sahu, P. Singhi
2017Pediatric Neurology8 citations
Semantic Scholar
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti
K. Yasuda, N. Minami, Y. Yoshikawa, T. Taketani +2 more
2016Pediatrics International8 citations
Semantic Scholar
Therapy‐related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia
T. Taketani, Rie Kanai, Mariko Abe, S. Mishima +6 more
2013Pediatrics International8 citations
Semantic Scholar
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan
Kenji Yamada, S. Yamaguchi, K. Yokoyama, K. Aoki +1 more
2021International Journal of Neonatal Screening7 citations Open access
Semantic Scholar

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S. Yamaguchi×28
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S. Yamaguchi — researcher profile on SciRah
S. Fukuda×20
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Hironori Kobayashi×17
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Kenji Yamada×15
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Kenji Yamada — researcher profile on SciRah

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Yuichi Mushimoto×7

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J. Purevsuren×6

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Mariko Abe — researcher profile on SciRah

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Ryosuke Bo — researcher profile on SciRah

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