論文・総説 - 鹿島田　健一

1. Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage. GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease. Respirol Case Rep. 2025.04; 13 (4): e70165. ( PubMed, DOI )

2. 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 )

3. Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno, Eriko Adachi, Mineko Ushiama, Teruhiko Yoshida, Makoto Hirata, Akihiro Hoshino, Kurara Yamomoto, Takumi Akashi, Yoshiko Nakano, Takeshi Isoda, Kei Takasawa, Motohiro Kato, Masatoshi Takagi, Kentaro Okamoto, Tomohiro Morio, Kenichi Kashimada. Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL Clin Pediatr Endocrinol. 2024.10; 33 (4): 229-237. ( 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(タイトル和訳中) 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. Manabu Sugie, Nobutoshi Nawa, Yusuke Noguchi, Atsuko Taki, Ayako Kashimada, Izumi Honda, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Hiroyuki Miyahara, Kazuyuki Ito, Takeru Yamauchi, Tsutomu Kondo, Fumiko Honda-Ozaki, Satoshi Kusuda, Chikako Morioka, Takeo Fujiwara, Tomohiro Morio, Kenichi Kashimada. Stage III Chorioamnionitis is Associated with Reduced Risk of Severe Retinopathy of Prematurity. J Pediatr. 2024.05; 272 114085. ( PubMed, DOI )

7. Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada. A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2024.02; 109 (3): 750-760. ( PubMed, DOI )

8. Analia Yogi, Kenichi Kashimada. Current and future perspectives on clinical management of classic 21-hydroxylase deficiency. Endocr J. 2023.10; 70 (10): 945-957. ( PubMed, DOI )

9. Tomoko Mizuno, Tadashi Kanouchi, Yumie Tamura, Ko Hirata, Runa Emoto, Tomonori Suzuki, Kenichi Kashimada, Tomohiro Morio. Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. BMC Neurol. 2023.10; 23 (1): 392. ( PubMed, DOI )

10. Salim Ferrani, Thierry Prazuck, Stéphane Béchet, Fabien Lesne, Robert Cohen, Corinne Levy. Diagnostic accuracy of a rapid antigen triple test (SARS-CoV-2, respiratory syncytial virus, and influenza) using anterior nasal swabs versus multiplex RT-PCR in children in an emergency department. Infect Dis Now. 2023.10; 53 (7): 104769. ( PubMed, DOI )

11. Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Keiji Moriyama, Taku Ishii, Susumu Hosokawa, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Kenichi Kashimada, Tomohiro Morio. BMP2 is a potential causative gene for isolated dextrocardia situs solitus. Eur J Med Genet. 2023.09; 66 (9): 104820. ( PubMed, DOI )

12. Kei Takasawa, Hiroyo Mabe, Fusa Nagamatsu, Naoko Amano, Yuichi Miyakawa, Akito Sutani, Reiko Kagawa, Satoshi Okada, Yusuke Tanahashi, Shigeru Suzuki, Shota Hiroshima, Keisuke Nagasaki, Sumito Dateki, Shigeru Takishima, Ikuko Takahashi, Kenichi Kashimada. Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence. Patient Prefer Adherence. 2023.08; 17 1885-1894. ( PubMed, DOI )

13. Anita C S Hokken-Koelega, Manouk van der Steen, Margaret C S Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D Chernausek, Wayne S Cutfield, Andrew Dauber, Asma Deeb, Wesley J Goedegebuure, Paul L Hofman, Elvira Isganatis, Alexander A Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau. International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood. Endocr Rev. 2023.05; 44 (3): 539-565. ( PubMed, DOI )

14. Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane. Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. J Clin Immunol. 2023.04; 43 (3): 585-594. ( PubMed, DOI )

15. Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2023.04; 15 (1): 22. ( PubMed, DOI )

16. Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada. Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report. Sex Dev. 2023.02; 17 (1): 51-55. ( PubMed, DOI )

17. Aoi Morishita, Tzu-Wen Yeh, Kouki Tomari, Mihoko Furuichi, Kenichi Kashimada, Tomohiro Morio, Masatoshi Takagi, Kohsuke Imai. Transient immune deficiency accompanied with homozygous CBL rare variant. Pediatr Int. 2023.01; 65 (1): e15439. ( PubMed, DOI )

18. Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio. A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2023.01; 13 1033074. ( PubMed, DOI )

19. Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa. Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening. Pediatr Int. 2023; 65 (1): e15481. ( PubMed, DOI )

20. Jumpei Kuroda, Kenichi Kashimada, Kaoru Okazaki. Neonatal alloimmune thrombocytopenia associated with fetomaternal hemorrhage. Pediatr Int. 2023; 65 (1): e15619. ( PubMed, DOI )