Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension

Circulation Journal

Volumn 76, Issue 6, 2012, Pages 1501-1508

  Chida, Ayako ^a,b   Shintani, Masaki ^b   Nakayama, Tomotaka ^c   Furutani, Yoshiyuki ^b   Hayama, Emiko ^b   Inai, Kei ^b   Saji, Tsutomu ^c   Nonoyama, Shigeaki ^a   Nakanishi, Toshio ^b  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

Author keywords

BMPR1B; Gain of function; Gene mutation; Pulmonary arterial hypertension

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; BONE MORPHOGENETIC PROTEIN RECEPTOR 1B; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; ENDOGLIN; SMAD1 PROTEIN; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD4 PROTEIN; SMAD5 PROTEIN; SMAD6 PROTEIN; SMAD7 PROTEIN; SMAD8 PROTEIN;

ARTICLE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; HUMAN; IDIOPATHIC DISEASE; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN PHOSPHORYLATION; PULMONARY HYPERTENSION; SCREENING; SEQUENCE ANALYSIS; TRANSCRIPTION INITIATION; WESTERN BLOTTING;

ADOLESCENT; AGE FACTORS; ANIMALS; ANTIHYPERTENSIVE AGENTS; BLOTTING, WESTERN; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; FEMALE; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; HEMODYNAMICS; HUMANS; HYPERTENSION, PULMONARY; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE; PHOSPHORYLATION; PROMOTER REGIONS, GENETIC; RISK ASSESSMENT; RISK FACTORS; SMAD4 PROTEIN; SMAD8 PROTEIN; TRANSFECTION; YOUNG ADULT;

EID: 84861581610     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-11-1281     Document Type: Article

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