日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome

SMAD3 中 C 末端 Ser423-X-Ser425 磷酸化基序上游的一种新型致病变异,可导致 Loeys-Dietz 综合征

Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro

Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish

努南综合征相关的双等位基因 LZTR1 突变导致斑马鱼心脏肥大和血管畸形

Yu Nakagama, Norihiko Takeda, Seishi Ogawa, Hiroyuki Takeda, Yoshiyuki Furutani, Toshio Nakanishi, Tatsuyuki Sato, Yoichiro Hirata, Akira Oka, Ryo Inuzuka

Macrophage hypoxia signaling regulates cardiac fibrosis via Oncostatin M

巨噬细胞缺氧信号通过抑癌素M调节心脏纤维化

Hajime Abe ,Norihiko Takeda ,Takayuki Isagawa ,Hiroaki Semba ,Satoshi Nishimura ,Masaki Suimye Morioka ,Yu Nakagama ,Tatsuyuki Sato ,Katsura Soma ,Katsuhiro Koyama ,Masaki Wake ,Manami Katoh ,Masataka Asagiri ,Michael L Neugent ,Jung-Whan Kim ,Christian Stockmann ,Tomo Yonezawa ,Ryo Inuzuka ,Yasushi Hirota ,Koji Maemura ,Takeshi Yamashita ,Kinya Otsu ,Ichiro Manabe ,Ryozo Nagai ,Issei Komuro

Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma

影响 TGFBR1 外显子 5 差异剪接的不同变异会导致 Loeys-Dietz 综合征或多发性自愈性鳞状上皮瘤

Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro