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

This publication has 10 references indexed in Scilit:

• BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
  American Journal of Human Genetics, 2001
• Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
  Journal of Medical Genetics, 2000
• Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
  Nature Genetics, 2000
• Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene
  American Journal of Human Genetics, 2000
• BMP2-induced Apoptosis Is Mediated by Activation of the TAK1-p38 Kinase Pathway That Is Negatively Regulated by Smad6
  Journal of Biological Chemistry, 2000
• Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
  Journal of Clinical Investigation, 1999
• Mapping of Familial Primary Pulmonary Hypertension Locus (PPH1) to Chromosome 2q31-q32
  Circulation, 1997
• Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32
  Nature Genetics, 1997
• Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension.
  American Journal of Respiratory and Critical Care Medicine, 1995
• Primary Pulmonary Hypertension
  Annals of Internal Medicine, 1987