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Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T. Amano N, et al. Among authors: okamura k. J Clin Endocrinol Metab. 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. J Clin Endocrinol Metab. 2024. PMID: 37878959
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: okamura k. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.
Hattori A, Seki A, Inaba N, Nakabayashi K, Takeda K, Tatsusmi K, Naiki Y, Nakamura A, Ishiwata K, Matsumoto K, Nasu M, Okamura K, Michigami T, Katoh-Fukui Y, Umezawa A, Ogata T, Kagami M, Fukami M. Hattori A, et al. Among authors: okamura k. Sci Rep. 2024 Apr 5;14(1):8069. doi: 10.1038/s41598-024-58530-9. Sci Rep. 2024. PMID: 38580675 Free PMC article.
ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype.
Hirabayashi S, Ohki K, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yaguchi A, Terada K, Saito Y, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fujimura J, Hino M, Kinoshita A, Kakuda H, Kurosawa H, Kato K, Kajiwara R, Moriwaki K, Morimoto T, Nakamura K, Noguchi Y, Osumi T, Sakashita K, Takita J, Yuza Y, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Fukushima T, Koh K, Manabe A, Ohara A, Kiyokawa N; Tokyo Children’s Cancer Study Group (TCCSG). Hirabayashi S, et al. Among authors: okamura k. Haematologica. 2017 Jan;102(1):118-129. doi: 10.3324/haematol.2016.151035. Epub 2016 Sep 15. Haematologica. 2017. PMID: 27634205 Free PMC article.
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.
Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Kubo M, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Okuno M, et al. Among authors: okamura k. Diabet Med. 2018 Mar;35(3):376-380. doi: 10.1111/dme.13566. Epub 2018 Jan 3. Diabet Med. 2018. PMID: 29247561
Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1.
Osumi T, Watanabe A, Okamura K, Nakabayashi K, Yoshida M, Tsujimoto SI, Uchiyama M, Takahashi H, Tomizawa D, Hata K, Kiyokawa N, Kato M. Osumi T, et al. Among authors: okamura k. Genes Chromosomes Cancer. 2019 Nov;58(11):820-823. doi: 10.1002/gcc.22791. Epub 2019 Aug 10. Genes Chromosomes Cancer. 2019. PMID: 31350930
Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation.
Osumi T, Tsujimoto SI, Tamura M, Uchiyama M, Nakabayashi K, Okamura K, Yoshida M, Tomizawa D, Watanabe A, Takahashi H, Hori T, Yamamoto S, Hamamoto K, Migita M, Ogata-Kawata H, Uchiyama T, Kizawa H, Ueno-Yokohata H, Shirai R, Seki M, Ohki K, Takita J, Inukai T, Ogawa S, Kitamura T, Matsumoto K, Hata K, Kiyokawa N, Goyama S, Kato M. Osumi T, et al. Among authors: okamura k. Cancer Res. 2018 Aug 15;78(16):4452-4458. doi: 10.1158/0008-5472.CAN-18-0840. Epub 2018 Jun 19. Cancer Res. 2018. PMID: 29921692
1,724 results