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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, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. Adachi E, et al. Among authors: gau m. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
Watanabe K, Tsuji-Hosokawa A, Hashimoto A, Konishi K, Ishige N, Yajima H, Sutani A, Nakatani H, Gau M, Takasawa K, Tajima T, Hasegawa T, Morio T, Kashimada K. Watanabe K, et al. Among authors: gau m. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3341-3352. doi: 10.1210/clinem/dgac521. J Clin Endocrinol Metab. 2022. PMID: 36071550
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
Saito Y, Takasawa K, Gau M, Yamauchi T, Nakagawa R, Miyakawa Y, Sutani A, Hosokawa-Tsuji A, Takishima S, Matsubara Y, Morio T, Kashimada K. Saito Y, et al. Among authors: gau m. Clin Pediatr Endocrinol. 2021;30(4):155-161. doi: 10.1297/cpe.30.155. Epub 2021 Oct 1. Clin Pediatr Endocrinol. 2021. PMID: 34629737 Free PMC article.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker EJ, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Nakagawa R, et al. Among authors: gau m. Hum Mol Genet. 2022 Jul 7;31(13):2223-2235. doi: 10.1093/hmg/ddac023. Hum Mol Genet. 2022. PMID: 35134173
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant.
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. Kirino S, et al. Among authors: gau m. Eur J Med Genet. 2022 Nov;65(11):104623. doi: 10.1016/j.ejmg.2022.104623. Epub 2022 Sep 15. Eur J Med Genet. 2022. PMID: 36116699
200 results