Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Yasumi, Nakashima"'
Autor:
Shingo Takahara, Shin-ichi Inoue, Sachiko Miyagawa-Tomita, Katsuhisa Matsuura, Yasumi Nakashima, Tetsuya Niihori, Yoichi Matsubara, Yoshikatsu Saiki, Yoko Aoki
Publikováno v:
EBioMedicine, Vol 42, Iss , Pp 43-53 (2019)
Background: Noonan syndrome (NS) is a genetic disorder characterized by short stature, a distinctive facial appearance, and heart defects. We recently discovered a novel NS gene, RIT1, which is a member of the RAS subfamily of small GTPases. NS patie
Externí odkaz:
https://doaj.org/article/41e0ef09b0594ee6b55ce28a69a4c23e
Autor:
Daiju Oba, Shin-ichi Inoue, Sachiko Miyagawa-Tomita, Yasumi Nakashima, Tetsuya Niihori, Seiji Yamaguchi, Yoichi Matsubara, Yoko Aoki
Publikováno v:
EBioMedicine, Vol 27, Iss C, Pp 138-150 (2018)
Costello syndrome is a “RASopathy” that is characterized by growth retardation, dysmorphic facial appearance, hypertrophic cardiomyopathy and tumor predisposition. >80% of patients with Costello syndrome harbor a heterozygous germline G12S mutati
Externí odkaz:
https://doaj.org/article/d07a04a64cc0409ba7327db6d8df0897
Autor:
Yasumi, Nakashima, Yoshiki, Mori, Hiroshi, Sugiura, Etsuko, Hirose, Katsuaki, Toyoshima, Satoshi, Masutani, Yasuhiko, Tanaka, Hitoshi, Yoda
Publikováno v:
Journal of Cardiology. 80:344-350
The frequency, mortality, and morbidity of very low birth weight (VLBW) infants with congenital heart disease (CHD) in Asian countries are limited. In addition, little is known about the risk factors of death in these infants.A retrospective, multice
Publikováno v:
Pediatric Cardiology. 41:1756-1765
Few reports have described the prognostic value of measuring both B-type natriuretic peptides (BNP) and high-sensitivity troponin T (hs-TnT) in pediatric patients with complex congenital heart disease (CHD) undergoing surgery. We assessed demographic
Autor:
Seiji Yamaguchi, Daiju Oba, Yoko Aoki, Shin Ichi Inoue, Tetsuya Niihori, Yoichi Matsubara, Sachiko Miyagawa-Tomita, Yasumi Nakashima
Publikováno v:
EBioMedicine, Vol 27, Iss C, Pp 138-150 (2018)
EBioMedicine
EBioMedicine
Costello syndrome is a "RASopathy" that is characterized by growth retardation, dysmorphic facial appearance, hypertrophic cardiomyopathy and tumor predisposition. >80% of patients with Costello syndrome harbor a heterozygous germline G12S mutation i
Autor:
Yoshiki Mori, Yasumi Nakashima, Nao Inoue, Tomotaka Murakami, Keitaro Isozaki, Sachie Kaneko, Kazumasa Watanabe, Masaaki Koide
Publikováno v:
Pediatric Cardiology and Cardiac Surgery. 32:160-167
Publikováno v:
Circulation journal : official journal of the Japanese Circulation Society. 81(11)
Autor:
Daiju Oba, Yoichi Matsubara, Yasumi Nakashima, Tetsuya Niihori, Yoko Aoki, Shin Ichi Inoue, Shigeo Kure, Mitsuji Moriya, Sachiko Miyagawa-Tomita, Misato Hashi, Hiroshi Ohnishi
Publikováno v:
Human molecular genetics. 24(25)
Activation of the RAS pathway has been implicated in oncogenesis and developmental disorders called RASopathies. Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized
Autor:
Makoto Nakazawa, Yasumi Nakashima, Hirofumi Tomimatsu, Yumiko Saga, Randy L. Johnson, Sachiko Miyagawa-Tomita, Hiroki Kokubo
Publikováno v:
Circulation Research. 95:540-547
Genes involved in the Notch signaling pathway have been shown to be critical regulators of cardiovascular development. In vitro studies have revealed that the Notch signaling pathway directly regulates transcription of hairy and enhancer of split-rel
Autor:
Masao Yoshizumi, Yasumi Nakashima, Hiroki Kokubo, Tsutomu Kume, Toshio Nakanishi, Yumiko Saga, Sachiko Miyagawa-Tomita
Publikováno v:
Arteriosclerosis, thrombosis, and vascular biology. 33(3)
Objective— Acquired heart diseases, such as valve disease, are major causes of human morbidity and mortality. However, the pathological mechanisms underlying these diseases are largely unknown. Our aim is to identify the role of the hairy and enhan