Unknown

Dataset Information

0

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension.

ABSTRACT: Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation.

SUBMITTER: Hara H 

PROVIDER: S-EPMC5397398 | biostudies-other | 2017

REPOSITORIES: biostudies-other

Json Xml
altmetric image

Publications

Three novel <i>BMPR2</i> mutations associated with advanced pulmonary arterial hypertension.

Hara Hironori H   Takeda Norifumi N   Morita Hiroyuki H   Hatano Masaru M   Amiya Eisuke E   Maki Hisataka H   Minatsuki Shun S   Taki Mizuri M   Shiraishi Yasuyuki Y   Fujiwara Takayuki T   Maemura Sonoko S   Komuro Issei I  

Human genome variation 20170420

Mutations in the bone morphogenetic protein receptor type II (<i>BMPR2</i>) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel <i>BMPR2</i> mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation. ...[more]

Similar Datasets

Unknown Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.
| S-EPMC3311512 | biostudies-literature
Unknown Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
| S-EPMC6892941 | biostudies-literature
Unknown Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.
| S-EPMC2986562 | biostudies-literature
Unknown Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
| S-EPMC4061078 | biostudies-literature
Unknown Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
| S-EPMC3163544 | biostudies-literature
Unknown BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.
| S-EPMC4737700 | biostudies-literature
Unknown Deficiency of Axl aggravates pulmonary arterial hypertension via BMPR2.
| S-EPMC8385080 | biostudies-literature
Unknown Rescuing the BMPR2 signaling axis in pulmonary arterial hypertension.
| S-EPMC4396626 | biostudies-literature
Unknown Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
| S-EPMC4113011 | biostudies-other
Unknown Functional mutations in 5'UTR of the BMPR2 gene identified in Chinese families with pulmonary arterial hypertension.
| S-EPMC4860546 | biostudies-literature