論文・総説 - 髙澤　啓

1. Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada. Analysis of Functional Cis-regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. Sex Dev. 2025.01; 1-19. ( PubMed, DOI )

2. Suzuki Y, Iemura R, Sutani A, Mizuno Y, Adachi E, Ushiama M, Yoshida T, Hirata M, Hoshino A, Yamomoto K, Akashi T, Nakano Y, Isoda T, Takasawa K, Kato M, Takagi M, Okamoto K, Morio T, Kashimada K. Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024.10; 33 (4): 229-237. ( PubMed, DOI )

3. Kaneko, S; Shimbo, A; Irabu, H; Hatano, M; Takasawa, K; Kamiya, T; Akamine, K; Tanaka, T; Minato, T; Ono, M; Yokoyama, K; Arisaka, A; Yasumi, T; Ueno, K; Fujita, S; Tanaka, Y; Hayashi, D; Nishikawa, H; Fujita, Y; Yuza, Y; Mori, M; Morio, T; Shimizu, M. Pathogenic role and diagnostic utility of interferon-α in histiocytic necrotizing lymphadenitis CLINICAL IMMUNOLOGY. 2024.09; 266 ( PubMed, DOI )

4. Takasawa Kei, Iemura Ryosei, Orimoto Ryuta, Yamano Haruki, Kirino Shizuka, Adachi Eriko, Saito Yoko, Yamamoto Kurara, Matsuda Nozomi, Takishima Shigeru, Shuno Kumi, Tajima Hanako, Sugie Manabu, Mizuno Yuki, Sutani Akito, Okamoto Kentaro, Masue Michiya, Morio Tomohiro, Kashimada Kenichi. Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience Clinical Pediatric Endocrinology. 2024.07; 33 (3): 187-194. ( 医中誌 )

5. Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa. RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review. Am J Med Genet A. 2024.06; 194 (6): e63562. ( PubMed, DOI )

6. Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. The Journal of clinical endocrinology and metabolism. 2024.02; 109 (3): 750-760. ( PubMed, DOI )

7. Yogi, A; Iemura, R; Nakatani, H; Takasawa, K; Gau, M; Yamauchi, T; Yoshida, M; Moriyama, K; Ishii, T; Hosokawa, S; Yamada, M; Suzuki, H; Kosaki, K; Kashimada, K; Morio, T. BMP2 is a potential causative gene for isolated dextrocardia situs solitus EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023.09; 66 (9): ( PubMed, DOI )

8. Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa. Monitoring hypoparathyroidism in long QT syndrome detected by ECG screening. Pediatr Int. 2023.01; e15481. ( PubMed, DOI )

9. Wakatsuki Ryosuke, Shimizu Masaki, Shimbo Asami, Adachi Eriko, Kanamori Toru, Yamazaki Susumu, Udagawa Tomohiro, Takasawa Kei, Kashimada Kenichi, Morio Tomohiro, Mori Masaaki. 全身性エリテマトーデスを伴った萎縮性自己免疫性甲状腺炎(Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus) Modern Rheumatology Case Reports. 2023.01; 7 (1): 65-67. ( 医中誌 )

10. Takizawa Chieko, Nakatani Hisae, Saito Yoko, Tsuji-Hosokawa Atsumi, Kikuchi Eriko, Shimoda Masuhiro, Takasawa Kei. 高カルシウム血症エピソードが出現した常染色体顕性低カルシウム血症の1例(A hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( 医中誌 )

11. Nakamura Arisa, Adachi Eriko, Matsubara Yohei, Ishii Taku, Hosokawa Susumu, Kashimada Kenichi, Takasawa Kei. 心電図スクリーニングで発見されたQT延長症候群例での副甲状腺機能低下症のモニタリング(Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( 医中誌 )

12. Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada. The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2022.11; 107 (12): 3341-3352. ( PubMed, DOI )

13. Kirino, S; Suzuki, M; Ogawa, T; Takasawa, K; Adachi, E; Gau, M; Takahashi, K; Ikeno, M; Yamada, M; Suzuki, H; Kosaki, K; Moriyama, K; Yoshida, M; Morio, T; Kashimada, K. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022.11; 65 (11): ( PubMed, DOI )

14. Iemura Ryosei, Kirino Shizuka, Sutani Akito, Kashimada Kenichi, Takasawa Kei. TSHR体細胞変異に起因する自律機能性甲状腺結節(Autonomously functioning thyroid nodule due to a somatic TSHR mutation) Pediatrics International. 2022.08; 64 (1): 1 of 3-3 of 3. ( 医中誌 )

15. Ishii Tomohiro, Kashimada Kenichi, Amano Naoko, Takasawa Kei, Nakamura-Utsunomiya Akari, Yatsuga Shuichi, Mukai Tokuo, Ida Shinobu, Isobe Mitsuhisa, Fukushi Masaru, Satoh Hiroyuki, Yoshino Kaoru, Otsuki Michio, Katabami Takuyuki, Tajima Toshihiro, Differences of Sex Development(DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology, Committee on Mass Screening, Japanese Society for Pediatric Endocrinology, Japanese Society for Neonatal Screening, Japanese Society for Pediatric Urology, Japan Endocrine Society. 21-水酸化酵素欠損症の診断・治療のガイドライン(2021年改訂版)(Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency(2021 revision)) Clinical Pediatric Endocrinology. 2022.07; 31 (3): 116-143. ( 医中誌 )

16. Kei Takasawa, Kenichi Kashimada. Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan. Front Pediatr. 2022.06; 10 936944. ( PubMed, DOI )

17. Yamaguchi Yohei, Takasawa Kei, Irabu Hitoshi, Hiratoko Kanako, Ichigi Yosuke, Hirata Ko, Tamura Yumie, Murakoshi Miki, Yamashita Motoi, Nakatani Hisae, Shimoda Masuhiro, Ishii Taku, Udagawa Tomohiro, Shimizu Masaki, Kanegane Hirokazu, Morio Tomohiro. 日本人小児の難治性COVID-19関連多系統炎症性症候群に対するインフリキシマブ治療(Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child) Journal of Infection and Chemotherapy. 2022.06; 28 (6): 814-818. ( 医中誌 )

18. Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T. Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2022.01; ( PubMed, DOI )

19. Takasawa Kei, Nakamura-Utsunomiya Akari, Amano Naoko, Ishii Tomohiro, Hasegawa Tomonobu, Hasegawa Yukihiro, Tajima Toshihiro, Ida Shinobu. 日本における21-水酸化酵素欠損症に対する移行期医療の現状　小児内分泌医の展望(Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists) Endocrine Journal. 2022.01; 69 (1): 75-83. ( 医中誌 )

20. Saito Yoko, Takasawa Kei, Gau Maki, Yamauchi Takeru, Nakagawa Ryuichi, Miyakawa Yuichi, Sutani Akito, Hosokawa-Tsuji Atsumi, Takishima Shigeru, Matsubara Yohei, Morio Tomohiro, Kashimada Kenichi. 21水酸化酵素欠損症患者における2歳時点の副腎抑制と体格データはヒドロコルチゾンの初期投与量に影響されない(Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency) Clinical Pediatric Endocrinology. 2021.10; 30 (4): 155-161. ( 医中誌 )