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T. Mukai · SciRah

Researcher profile · Semantic Scholar

T. Mukai

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T. Mukai — researcher profile on SciRah

h-index: 19
Works: 60
Citations: 1,293

Most-cited papers

Comparative localization of Dax‐1 and Ad4BP/SF‐1 during development of the hypothalamic‐pituitary‐gonadal axis suggests their closely related and distinct functions
Y. Ikeda, Y. Takeda, Tatsuji Shikayama, T. Mukai +2 more
2001Developmental Dynamics151 citations
Semantic Scholar
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.
H. Mizusaki, K. Kawabe, T. Mukai, Etsuko Ariyoshi +4 more
2003Molecular Endocrinology150 citations Open access
Semantic Scholar
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.
T. Komatsu, H. Mizusaki, T. Mukai, Hidesato Ogawa +7 more
2004Molecular Endocrinology115 citations Open access
Semantic Scholar
Posters Presentations: P1-149–P1-317
N. Mauras, O. Pescovitz, V. Allada, Michael +12 more
2005Hormone Research in Paediatrics98 citations Open access
Semantic Scholar
Expression profiles of COUP-TF, DAX-1, and SF-1 in the human adrenal gland and adrenocortical tumors: possible implications in steroidogenesis.
H. Shibata, Yayoi Ikeda, T. Mukai, Ken-ichirou Morohashi +7 more
2001Molecular Genetics and Metabolism75 citations
Semantic Scholar
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
N. Amano, T. Mukai, Y. Ito, S. Narumi +4 more
2014Journal of Clinical Endocrinology and Metabolism73 citations
Semantic Scholar
Molecular basis of neonatal diabetes in Japanese patients.
Shigeru Suzuki, Y. Makita, T. Mukai, Kumihiro Matsuo +2 more
2007Journal of Clinical Endocrinology and Metabolism72 citations Open access
Semantic Scholar
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
J. Nakae, T. Tajima, S. Kusuda, N. Kohda +7 more
1996Journal of Clinical Endocrinology and Metabolism64 citations Open access
Semantic Scholar
Sexually dimorphic expression of Dax‐1 in the adrenal cortex
T. Mukai, Masatomo Kusaka, K. Kawabe, K. Goto +3 more
2002Genes to Cells57 citations
Semantic Scholar
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.
K. Fujieda, K. Okuhara, S. Abe, T. Tajima +2 more
2003Journal of Steroid Biochemistry and Molecular Biology55 citations
Semantic Scholar
HLA‐class II and class I genotypes among Japanese children with Type 1A diabetes and their families
S. Sugihara, T. Ogata, T. Kawamura, T. Urakami +35 more
2012Pediatric Diabetes30 citations
Semantic Scholar
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
Kumihiro Matsuo, Y. Tanahashi, T. Mukai, Shigeru Suzuki +3 more
2016Journal of Pediatric Endocrinology & Metabolism (JPEM)29 citations
Semantic Scholar
Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan
Kumihiro Matsuo, T. Mukai, Shigeru Suzuki, K. Fujieda
2009Pediatrics International29 citations
Semantic Scholar
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
T. Ishii, K. Kashimada, N. Amano, K. Takasawa +11 more
2022Clinical Pediatric Endocrinology28 citations Open access
Semantic Scholar
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Yoshiro Suzuki, Hirotake Sawada, T. Tokumasu, Shigeru Suzuki +6 more
2020Journal of Physiological Sciences26 citations Open access
Semantic Scholar
Identification of novel first exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specific usage.
Rina Kimura, H. Yoshii, Masatoshi Nomura, Naoe Kotomura +7 more
2000Biochemical and Biophysical Research Communications - BBRC26 citations
Semantic Scholar
A novel isoform of Vinexin, Vinexin γ, regulates Sox9 gene expression through activation of MAPK cascade in mouse fetal gonad
M. Matsuyama, H. Mizusaki, A. Shimono, T. Mukai +4 more
2005Genes to Cells25 citations Open access
Semantic Scholar
Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited.
T. Ishii, T. Tajima, K. Kashimada, T. Mukai +7 more
2020Journal of Clinical Endocrinology and Metabolism23 citations
Semantic Scholar
Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
M. Maimaiti, Satoru Takahashi, K. Okajima, Nao Suzuki +5 more
2009Journal of Human Genetics22 citations
Semantic Scholar
FUT2 non‐secretor status is associated with Type 1 diabetes susceptibility in Japanese children
K. Ihara, C. Fukano, T. Ayabe, M. Fukami +36 more
2017Diabetic Medicine15 citations
Semantic Scholar
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Shigeru Suzuki, Takahide Kokumai, Akiko Furuya, Tsunehisa Nagamori +9 more
2020European Journal of Medical Genetics14 citations
Semantic Scholar
Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age‐specific effects of cis‐regulatory haplotypes at 17q12‐q21
T. Ayabe, M. Fukami, T. Ogata, T. Kawamura +35 more
2016Diabetic Medicine14 citations
Semantic Scholar
Orphan Receptors Coup-TF and Dax-1 as Targets in Disordered CYP17 Expression in Adrenocortical Tumors
H. Shibata, Y. Ikeda, K. Morohashi, T. Mukai +8 more
2000Endocrine Research13 citations
Semantic Scholar
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
H. Inoue, T. Mukai, Yukiko Sakamoto, C. Kimura +5 more
2012Clinical Endocrinology12 citations
Semantic Scholar
Non‐invasive discrimination of acute focal bacterial nephritis with pyelonephritis
H. Oka, Tsunehisa Nagamori, Shiho Yamamoto, Hiromi Manabe +4 more
2019Pediatrics International9 citations
Semantic Scholar
Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report.
Y. Naito, Jun Mori, Jun Tazoe, Akimasa Tomida +6 more
2019Endocrine journal8 citations Open access
Semantic Scholar
Patient Reports: Two Novel Frameshift Mutations in the SOX9 Gene in Two Patients with Campomelic Dysplasia who showed Long-Term Survival
T. Okamoto, Eiki Nakamura, K. Nagaya, Tokitsugi Hayashi +2 more
2010Journal of Pediatric Endocrinology & Metabolism (JPEM)8 citations
Semantic Scholar
A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia.
Kumihiro Matsuo, T. Mukai, Akiko Furuya, Shigeru Suzuki +2 more
2013Clinical Pediatric Endocrinology6 citations
Semantic Scholar
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia
Shigeru Suzuki, D. Fujisawa, K. Hashimoto, T. Asano +5 more
2010Clinical Genetics6 citations
Semantic Scholar
Adrenocortical and Gonadal Differentiation Regulated by Transcription Factors, Ad4BP/SF-1 (NR5A1) and Dax- I (NROB1)
K. Morohashi, T. Mukai, K. Kawabe, Suzuki +4 more
2000Endocrine Research6 citations
Semantic Scholar
A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.
Shigeru Suzuki, Kumihiro Matsuo, Y. Ito, A. Kobayashi +9 more
2021European Journal of Endocrinology5 citations Open access
Semantic Scholar
A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease.
Ryohei Mineo, Sachiko Tamba, Yuya Yamada, Tomonori Okita +12 more
2016Internal medicine5 citations Open access
Semantic Scholar
A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia
Kumihiro Matsuo, T. Mukai, Akiko Furuya, Shigeru Suzuki +2 more
2013Clinical Pediatric Endocrinology5 citations Open access
Semantic Scholar
Inappropriate tall stature and renal ectopy in a male patient with X‐linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX‐1 gene
A. Franzese, N. Brunetti-Pierri, R. Spadaro, T. Mukai +1 more
2005American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Glycemic control and motor development in a patient with intermediate DEND
H. Oka, Shigeru Suzuki, Akiko Furuya, Kumihiro Matsuo +8 more
2014Pediatrics International4 citations
Semantic Scholar
Serial sonographic findings during progression from acute pyelonephritis to renal abscess: a rare case report
Masayuki Sato, Shigeru Suzuki, Sorachi Shimada, Shiho Yamamoto +5 more
2017CEN Case Reports3 citations Open access
Semantic Scholar
3β-Hydroxysteroid Dehydrogenase Deficiency
K. Fujieda, J. Nakae, T. Mukai
20043 citations
Semantic Scholar
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
H. Mizusaki, K. Kawabe, T. Mukai, Etsuko Ariyoshi +6 more
3 citations
Semantic Scholar
Increased diagnosis of autoimmune childhood‐onset Japanese type 1 diabetes using a new glutamic acid decarboxylase antibody enzyme‐linked immunosorbent assay kit, compared with a previously used glutamic acid decarboxylase antibody radioimmunoassay kit
S. Sugihara, I. Yokota, T. Mukai, T. Mochizuki +10 more
2019Journal of Diabetes Investigation2 citations Open access
Semantic Scholar
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Takahide Kokumai, S. Suzuki, Noriko Nishikawa, H. Yamamura +3 more
2022Journal of Clinical Research in Pediatric Endocrinology1 citations Open access
Semantic Scholar
Sufficient increment of sulfonylurea without reintroduction of insulin ameliorates pubertal deterioration of glycaemic control in KCNJ11 neonatal diabetes treated with long-term sulfonylurea
Shigeru Suzuki, T. Mukai, Takahide Kokumai, Akiko Furuya +2 more
2020Diabetologia1 citations
Semantic Scholar
Congenital aldosterone deficiency and its resistance
Toshihiro Tajima, Naoko Amano, Tomohiro Ishii, Michio Otuski +6 more
2026Endocrine journal0 citations Open access
Semantic Scholar
Bacteremia-Induced Cholestatic Jaundice as a Major Manifestation of Pneumococcal Infection in a Healthy Toddler
Shigeru Suzuki, Genya Taketazu, T. Mukai, H. Sakata +1 more
2020Journal of Pediatric Infectious Diseases0 citations
Semantic Scholar
A Case of Sporadic Carney Complex Diagnosed with Cutaneous Myxoma of the Right Cheek
Hiroko Sonoyama, Eri Yoshimi, Toshihiko Mashino, T. Mukai +1 more
2019Nishi Nihon Hifuka0 citations Open access
Semantic Scholar
Severe gastrointestinal involvement predictive score in IgA vasculitis is also a risk factor for nephritis being varied depending on their ages of onset
Tsunehisa Nagamori, Hironori Takahashi, Yoichiro Yoshida, H. Oka +7 more
2019Journal of Paediatrics and Child Health0 citations Open access
Semantic Scholar
一般小児病棟におけるHigh Flow Nasal Cannulaの使用経験
Sorachi Shimada, Masayuki Sato, Yuichi Akabane, Yukari Sakurai +6 more
20170 citations
Semantic Scholar
A novel splicing mutation of the POU1F1 gene in Japanese identical twins with mild combined pituitary hormone deficiency
T. Mukai, H. Inoue, Y. Ito, M. Itakura +1 more
20120 citations
Semantic Scholar
[Kallmann syndrome].
Kenji Fujieda, T. Mukai
2006Nihon rinsho. Japanese journal of clinical medicine0 citations
Semantic Scholar
P-03 BENEFICIAL EFFECTS OF GROWTH HORMONE ADMINISTRATION ON THE HEART IN SPONTANEOUS DWARF RATS
H. Kajino, Naoya Tsuda, Hiromi Manabe, M. Sugimoto +2 more
20060 citations
Semantic Scholar
成長異常,発育遅延,てんかん,奇異な顔貌を伴った永続型新生児糖尿病（著者の要望によるタイトル）成長異常,発育遅延,てんかん,奇異な顔貌を伴った恒久的新生児糖尿病（医中誌のタイトル）
滋鈴木, T. Mukai, K. Uetake, Syun-ichi Sageshima +4 more
20050 citations
Semantic Scholar

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K. Fujieda×15
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Shigeru Suzuki×14
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Shigeru Suzuki — researcher profile on SciRah
Kumihiro Matsuo×11
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Kumihiro Matsuo — researcher profile on SciRah
Y. Tanahashi×10
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K. Morohashi×7

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H. Mizusaki — researcher profile on SciRah

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