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Literature DB >> 15591269

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

R Koehler¹, 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.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2004 PMID： 15591269 PMCID： PMC1735632 DOI： 10.1136/jmg.2004.023101

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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24 in total

1. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Authors: Joy D Cogan; Michael W Pauciulo; Amy P Batchman; Melissa A Prince; Ivan M Robbins; Lora K Hedges; Krista C Stanton; Lisa A Wheeler; John A Phillips; James E Loyd; William C Nichols
Journal: Am J Respir Crit Care Med Date: 2006-05-25 Impact factor: 21.405

Review 2. The role of genetics in pulmonary arterial hypertension.

Authors: Lijiang Ma; Wendy K Chung
Journal: J Pathol Date: 2016-11-29 Impact factor: 7.996

3. Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension.

Authors: James P Maloney; Robert S Stearman; Todd M Bull; David W Calabrese; Megan L Tripp-Addison; Marilee J Wick; Ulrich Broeckel; Ivan M Robbins; Lisa A Wheeler; Joy D Cogan; James E Loyd
Journal: Am J Physiol Lung Cell Mol Physiol Date: 2011-12-23 Impact factor: 5.464

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

1. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Review 2. The role of genetics in pulmonary arterial hypertension.

3. Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension.

Review 4. Genetics and mediators in pulmonary arterial hypertension.

Review 5. Pulmonary arterial hypertension: pathogenesis and clinical management.

Review 6. Pulmonary arterial hypertension in connective tissue diseases.

Review 7. Genetics of pulmonary arterial hypertension.

8. Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension.

9. Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.

10. Heritable forms of pulmonary arterial hypertension.