Tajima, Toshihiro

Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

Tajima, T., Fujieda, K., Kouda, N., Nakae, J., & Miller, W. L. (2001) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 196

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

Fujieda, K., Tajima, T., Nakae, J., Sageshima, S., Tachibana, K., Suwa, S., Sugawara, T., & Strauss, J. F. (1997) · Journal of Clinical Investigation

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 162

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone

Homma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Tajima, T., Takeda, R., Fukami, M., & Ogata, T. (2006) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 153

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Fukami, M., Nishimura, G., Homma, K., Nagai, T., Hanaki, K., Uematsu, A., Ishii, T., Numakura, C., Sawada, H., Nakacho, M., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 117

Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice

Tajima, T., Okada, T., Ma, X.-M., Ramsey, W. J., Bornstein, S. R., & Aguilera, G. (1999) · Gene Therapy

Virus-based gene therapy researchAdrenal Hormones and Disorders

Cited by 88

Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice

Hornstein, S. R., Tajima, T., Eisenhofer, G., Haidan, A., & Aguilera, G. (1999) · The FASEB Journal

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 73

Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited

Ishii, T., Tajima, T., Kashimada, K., Mukai, T., Tanahashi, Y., Katsumata, N., Kanno, J., Hamajima, T., Miyako, K., Ida, S., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 56

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Adachi, E., Nakagawa, R., Tsuji-Hosokawa, A., Gau, M., Kirino, S., Yogi, A., Nakatani, H., Takasawa, K., Yamaguchi, T., Kosho, T., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersGenomics and Rare Diseases

Cited by 16

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Yatsuga, S., Amano, N., Nakamura-Utsunomiya, A., Kobayashi, H., Takasawa, K., Nagasaki, K., Nakamura, A., Nishigaki, S., Numakura, C., Fujiwara, I., et al. (2020) · Endocrine Journal

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 9