A genetic analysis for patients with pulmonary arterial hypertension

Yu Yoshida, Keiko Uchida, Kazuki Kodo, Yoshiyuki Furutani, Toshio Nakanishi, Hiroyuki Yamagishi

研究成果: Chapter

抄録

Pulmonary arterial hypertension (PAH) is a lethal disease [1]. Although mutations in BMPR2 and other genes have been reported, the genetic causes in large numbers of patients, especially with sporadic PAH, remain unknown. In 2013, Kerstjens-Frederikse et al. first reported TBX4 mutations in patients with PAH [2]. TBX4 is an essential transcription factor for the development of the hindlimbs and lungs [3]. In European countries, the frequency of TBX4 mutation was reported as 2.4-4.1% in adult-onset PAH [2, 4] and as 7.5-30% in child-onset PAH [2, 5] (Fig. 27.1). However, its frequency in Asian patients with PAH has yet to be studied.

本文言語English
ホスト出版物のタイトルMolecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension
出版社Springer Singapore
ページ201-203
ページ数3
ISBN(電子版)9789811511851
ISBN(印刷版)9789811511844
DOI
出版ステータスPublished - 2020 1 1

ASJC Scopus subject areas

  • Medicine(all)

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