Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension

Pediatrics International

Volumn 44, Issue 4, 2002, Pages 433-435

  Uehara, Ritei ^a   Suzuki, Hideaki ^a   Kurokawa, Naokiyo ^a   Urashima, Takashi ^a   Fujiwara, Masako ^a   Matoba, Masako ^a   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Bone morphogenetic protein receptor type II gene (BMPR2); Familial primary pulmonary hypertension; Nonsense mutation

Indexed keywords

ACETYLSALICYLIC ACID; BERAPROST; CATECHOLAMINE; DOBUTAMINE; ENZYME INHIBITOR; GENOMIC DNA; MILRINONE; NIFEDIPINE; PROSTACYCLIN DERIVATIVE; VASODILATOR AGENT;

AORTA PRESSURE; ARTICLE; BLOOD ANALYSIS; BMPR II GENE; CASE REPORT; CLINICAL FEATURE; CLINICAL TRIAL; CONNECTIVE TISSUE DISEASE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; COUGHING; DISEASE COURSE; DNA DETERMINATION; DNA ISOLATION; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FATIGUE; FEMALE; GENE; HEART CATHETERIZATION; HEART DISEASE; HEART MURMUR; HEART RIGHT VENTRICLE HYPERTROPHY; HUMAN; HYPOXIA; INFORMED CONSENT; LUNG ARTERY PRESSURE; LUNG EMBOLISM; LUNG WEDGE PRESSURE; LYMPHOCYTE; MORTALITY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCINTIGRAPHY;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; HUMANS; HYPERTENSION, PULMONARY; JAPAN; MALE; PROTEIN-SERINE-THREONINE KINASES;

EID: 0036040672     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2002.01567.x     Document Type: Article

References (11)

1. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension
2. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32
3. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32
4. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene
5. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
6. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
7. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
8. BMP2-induced apoptosis is mediated by activation of the TAK1-p38 kinase pathway that is negatively regulated by Smad6
9. The nationwide survey with primary pulmonary hypertension in childhood
10. Primary pulmonary hypertension: A national prospective study
11. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice