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Tokuo Mukai

Comparative localization of Dax‐1 and Ad4BP/SF‐1 during development of the hypothalamic‐pituitary‐gonadal axis suggests their closely related and distinct functions
2001 · Yayoi Ikeda, Yoshie Takeda, et al. · Developmental Dynamics · 150
Dax-1 (Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Congenita Critical Region on the X Chromosome, Gene 1) Gene Transcription Is Regulated by Wnt4 in the Female Developing Gonad
2003 · Hirofumi Mizusaki, Ken Kawabe, et al. · Molecular Endocrinology · 147
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Small Ubiquitin-Like Modifier 1 (SUMO-1) Modification of the Synergy Control Motif of Ad4 Binding Protein/Steroidogenic Factor 1 (Ad4BP/SF-1) Regulates Synergistic Transcription between Ad4BP/SF-1 and Sox9
2004 · Tomoko Komatsu, Hirofumi Mizusaki, et al. · Molecular Endocrinology · 114
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Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature
2014 · Naoko Amano, Tokuo Mukai, et al. · The Journal of Clinical Endocrinology & Metabolism · 75
Molecular Basis of Neonatal Diabetes in Japanese Patients
2007 · Shigeru Suzuki, Yoshio Makita, et al. · The Journal of Clinical Endocrinology & Metabolism · 73
Expression Profiles of COUP–TF, DAX-1, and SF-1 in the Human Adrenal Gland and Adrenocortical Tumors: Possible Implications in Steroidogenesis
2001 · Hirotaka Shibata, Yayoi Ikeda, et al. · Molecular Genetics and Metabolism · 70
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
1996 · J Nakae, T Tajima, et al. · The Journal of Clinical Endocrinology & Metabolism · 63
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited
2020 · Tomohiro Ishii, Toshihiro Tajima, et al. · The Journal of Clinical Endocrinology & Metabolism · 58
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita
2003 · Kenji Fujieda, Koji Okuhara, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 57
Sexually dimorphic expression of Dax‐1 in the adrenal cortex
2002 · Tokuo Mukai, Masatomo Kusaka, et al. · Genes to Cells · 57
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
2022 · Tomohiro Ishii, Kenichi Kashimada, et al. · Clinical Pediatric Endocrinology · 35
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HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families
2011 · Shigetaka Sugihara, Tsutomu Ogata, et al. · Pediatric Diabetes · 35
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
2020 · Yoshiro Suzuki, Hirotake Sawada, et al. · The Journal of Physiological Sciences · 34
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A novel isoform of Vinexin, Vinexin γ, regulates Sox9 gene expression through activation of MAPK cascade in mouse fetal gonad
2005 · Makoto Matsuyama, Hirofumi Mizusaki, et al. · Genes to Cells · 34
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High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
2016 · Kumihiro Matsuo, Yusuke Tanahashi, et al. · Journal of Pediatric Endocrinology and Metabolism · 31
Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan
2009 · Kumihiro Matsuo, Tokuo Mukai, et al. · Pediatrics International · 30
Identification of Novel First Exons in Ad4BP/SF-1 (NR5A1) Gene and Their Tissue- and Species-Specific Usage
2000 · Rina Kimura, Hironori Yoshii, et al. · Biochemical and Biophysical Research Communications · 28
Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
2009 · Mireguli Maimaiti, Satoru Takahashi, et al. · Journal of Human Genetics · 19
FUT 2 non‐secretor status is associated with Type 1 diabetes susceptibility in Japanese children
2016 · K. Ihara, C. Fukano, et al. · Diabetic Medicine · 16
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation
2020 · Shigeru Suzuki, Takahide Kokumai, et al. · European Journal of Medical Genetics · 15
Non‐invasive discrimination of acute focal bacterial nephritis with pyelonephritis
2019 · Hideharu Oka, Tsunehisa Nagamori, et al. · Pediatrics International · 14
Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age‐specific effects of cis‐regulatory haplotypes at 17q12‐q21
2016 · T. Ayabe, M. Fukami, et al. · Diabetic Medicine · 14
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT‐1 gene in Japanese identical twins with mild combined pituitary hormone deficiency
2011 · Hiroshi Inoue, Tokuo Mukai, et al. · Clinical Endocrinology · 14
Orphan Receptors Coup-TF and Dax-1 as Targets in Disordered CYP17 Expression in Adrenocortical Tumors
2000 · Hirotaka Shibata, Yayoi Ikeda, et al. · Endocrine Research · 12
Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report
2019 · Yuki Naito, Jun Mori, et al. · Endocrine Journal · 11
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Works count: 52
Citation count: 1,263
H-index: 18
I10-index: 25
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