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Your search keyword '"Ishizaki, Reina"' showing total 11 results
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11 results on '"Ishizaki, Reina"'

3. Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia

Author

Morita, Shuhei, primary, Nomura, Shunsuke, additional, Azuma, Kenko, additional, Chida‐Nagai, Ayako, additional, Furutani, Yoshiyuki, additional, Inai, Kei, additional, Inoue, Tatsuya, additional, Niimi, Yasunari, additional, Iizuka, Yuo, additional, Tsutsumi, Yoshiyuki, additional, Ishizaki, Reina, additional, Yamagishi, Hiroyuki, additional, Kawamata, Takakazu, additional, and Akagawa, Hiroyuki, additional

Published
2024
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6. The c.1617del variant of TMEM260is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

Author

Inoue, Tadashi, Takase, Ryuta, Uchida, Keiko, Kodo, Kazuki, Suda, Kenji, Watanabe, Yoriko, Yoshiura, Koh-Ichiro, Kunimatsu, Masaya, Ishizaki, Reina, Azuma, Kenko, Inai, Kei, Muneuchi, Jun, Furutani, Yoshiyuki, Akagawa, Hiroyuki, and Yamagishi, Hiroyuki

Abstract

Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del of TMEM260has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of the 22q11.2 deletion, the most well-known genetic cause of PTA. Phenotype of patients with c.1617del appears to be predominantly in the heart, although TMEM260is responsible for structural heart defects and renal anomalies syndrome (SHDRA). The mouse TMEM260 variant (p.W535Cfs*56), synonymous with the human variant (p.W539Cfs*9), exhibited truncation and downregulation by western blotting, and aggregation by immunocytochemistry. In situ hybridization demonstrated that Tmem260is expressed ubiquitously during embryogenesis, including in the development of cardiac OFT implicated in PTA. This expression may be regulated by a ~ 0.8 kb genomic region in intron 3 of Tmem260that includes multiple highly conserved binding sites for essential cardiac transcription factors, thus revealing that the c.1617del variant of TMEM260is the major single-gene variant responsible for PTA in the Japanese population.

Published
2024
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7. Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice

Author

Tsuchihashi, Takatoshi, Ishizaki, Reina, Maeda, Jun, Shibata, Akimichi, Uchida, Keiko, Srivastava, Deepak, Yamagishi, Hiroyuki, Nakanishi, Toshio, editor, Markwald, Roger R., editor, Baldwin, H.Scott, editor, Keller, Bradley B., editor, Srivastava, Deepak, editor, and Yamagishi, Hiroyuki, editor

Published
2016
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8. Pregnancy and Delivery in Patients With Repaired Congenital Heart Disease ― A Retrospective Japanese Multicenter Study ―

Author

Takatsuki, Shinichi, primary, Furutani, Yoshiyuki, additional, Inai, Kei, additional, Kobayashi, Tohru, additional, Inuzuka, Ryo, additional, Uyeda, Tomomi, additional, Kamisago, Mitsuhiro, additional, Muneuchi, Jun, additional, Kaneko, Masahide, additional, Misaki, Yasushi, additional, Ono, Hiroshi, additional, Kato, Hitoshi, additional, Shimada, Eriko, additional, Shinohara, Tokuko, additional, Waki, Kenji, additional, Suda, Kenji, additional, Hayabuchi, Yasunobu, additional, Ohki, Hirotaka, additional, Ishizaki, Reina, additional, Maeda, Jun, additional, and Yamagishi, Hiroyuki, additional

Published
2020
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