A genetic analysis for patients with pulmonary arterial hypertension

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

doi:10.1007/978-981-15-1185-1_27

A genetic analysis for patients with pulmonary arterial hypertension

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

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

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.

Original language	English
Title of host publication	Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension
Publisher	Springer Singapore
Pages	201-203
Number of pages	3
ISBN (Electronic)	9789811511851
ISBN (Print)	9789811511844
DOIs	https://doi.org/10.1007/978-981-15-1185-1_27
Publication status	Published - 2020 Jan 1

Keywords

Genetic analysis
Pulmonary hypertension
T-box
TBX4

ASJC Scopus subject areas

Medicine(all)

Access to Document

10.1007/978-981-15-1185-1_27

Cite this

@inbook{f7dfbd70bf4b44cb89a3ac2cdd20f0ef,

title = "A genetic analysis for patients with pulmonary arterial hypertension",

abstract = "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.",

keywords = "Genetic analysis, Pulmonary hypertension, T-box, TBX4",

author = "Yu Yoshida and Keiko Uchida and Kazuki Kodo and Yoshiyuki Furutani and Toshio Nakanishi and Hiroyuki Yamagishi",

year = "2020",

month = jan,

day = "1",

doi = "10.1007/978-981-15-1185-1_27",

language = "English",

isbn = "9789811511844",

pages = "201--203",

booktitle = "Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension",

publisher = "Springer Singapore",

}

TY - CHAP

T1 - A genetic analysis for patients with pulmonary arterial hypertension

AU - Yoshida, Yu

AU - Uchida, Keiko

AU - Kodo, Kazuki

AU - Furutani, Yoshiyuki

AU - Nakanishi, Toshio

AU - Yamagishi, Hiroyuki

PY - 2020/1/1

Y1 - 2020/1/1

N2 - 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.

AB - 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.

KW - Genetic analysis

KW - Pulmonary hypertension

KW - T-box

KW - TBX4

UR - http://www.scopus.com/inward/record.url?scp=85088433379&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85088433379&partnerID=8YFLogxK

U2 - 10.1007/978-981-15-1185-1_27

DO - 10.1007/978-981-15-1185-1_27

M3 - Chapter

AN - SCOPUS:85088433379

SN - 9789811511844

SP - 201

EP - 203

BT - Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension

PB - Springer Singapore

ER -

A genetic analysis for patients with pulmonary arterial hypertension

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this