Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.
نویسندگان
چکیده
R Koehler*, E Grünig*, M W Pauciulo*, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, W C Nichols . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
ONLINE MUTATION REPORT Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
R Koehler*, E Grünig*, M W Pauciulo*, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, W C Nichols . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملSequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease.
BACKGROUND Idiopathic pulmonary arterial hypertension (IPAH) and chronic thromboembolic pulmonary hypertension (CTEPH) share important pathogenic and clinical features. BMPR2 mutations are important in the pathogenesis of IPAH, but little is known about the genetic background in CTEPH. OBJECTIVE To search for mutations and polymorphisms in genes involved in the BMPR2, serotonin and nitric oxi...
متن کاملHemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations
BACKGROUND Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened for BMPR2 mutations in a large cohort of PAH-patients and compared clinical features between BMPR2 mutation carriers and non-carriers. METHODS Patients have been assessed by right heart catheterization and genetic testi...
متن کاملBMPR2 Mutations in Six Taiwanese Patients with Idiopathic Pulmonary Arterial Hypertension
Background: Mutations in bone morphogenetic protein receptor type II (BMPR2) and activin-like kinase 1 (ALK1), have been implicated in the pathogenesis of heritable or idiopathic pulmonary arterial hypertension (HPAH/IPAH). However, there was still a lack of information regarding the underlying genetic factors in Taiwanese PAH patients. Methods: A total of 6 patients diagnosed with IPAH were en...
متن کاملMolecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Mutations of the bone morphogenetic protein type II receptor (BMPR2) gene predispose to pulmonary arterial hypertension (PAH). 290 idiopathic (I)PAH patients and 15 heritable (H)PAH were screened to determine the spectrum and rate of BMPR2 mutations in a large Chinese patient group. Gene sequencing and multiplex ligation-dependent probe amplification (MLPA®) were used to detect sequence mutatio...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 12 شماره
صفحات -
تاریخ انتشار 2004