| Genetics of pulmonary arterial hypertension. | |
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MedLine Citation:
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PMID: 19634078 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Tremendous progress has been made in understanding the genetics of hereditable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, female predominance, and genetic anticipation. These characteristics suggest that endogenous and exogenous factors modify disease expression and areas of emphasis for future investigation. The variable clinical expression makes genetic counseling complex because the majority of carriers of a BMPR2 mutation will not be diagnosed with the disease. This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH. |
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Authors:
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Eric D Austin; James E Loyd; John A Phillips |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2009-07-24 |
Journal Detail:
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Title: Seminars in respiratory and critical care medicine Volume: 30 ISSN: 1098-9048 ISO Abbreviation: Semin Respir Crit Care Med Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-27 Completed Date: 2009-10-12 Revised Date: 2012-06-25 |
Medline Journal Info:
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Nlm Unique ID: 9431858 Medline TA: Semin Respir Crit Care Med Country: United States |
Other Details:
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Languages: eng Pagination: 386-98 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of Pulmonary, Allergy, and Immunology Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Morphogenetic Protein Receptors, Type II
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genetics* Female Genetic Counseling Genetic Predisposition to Disease Genetic Testing / methods Germ-Line Mutation Humans Hypertension, Pulmonary / genetics* Male Sex Factors |
| Grant Support | |
ID/Acronym/Agency:
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K12 RR1 7697/RR/NCRR NIH HHS; P01 HL072058/HL/NHLBI NIH HHS; RR000095/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 2.7.11.30/BMPR2 protein, human; EC 2.7.11.30/Bone Morphogenetic Protein Receptors, Type II |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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