Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension
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چکیده
منابع مشابه
Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension
High-altitude pulmonary hypertension (HAPH) has heritable features and is a major cause of death in cattle in the Rocky Mountains, USA. Although multiple genes are likely involved in the genesis of HAPH, to date no major gene variant has been identified. Using whole-exome sequencing, we report the high association of an EPAS1 (HIF2α) double variant in the oxygen degradation domain of EPAS1 in A...
متن کاملUsing diverse U.S. beef cattle genomes to identify missense mutations in EPAS1, a gene associated with high-altitude pulmonary hypertension
The availability of whole genome sequence (WGS) data has made it possible to discover protein variants . However, existing bovine WGS databases do in silico not show data in a form conducive to protein variant analysis, and tend to under represent the breadth of genetic diversity in U.S. beef cattle. Thus, our first aim was to use 96 beef sires, sharing minimal pedigree relationships, to create...
متن کاملHigh altitude-induced pulmonary hypertension in normal cattle.
• Elevation of the pulmonary arterial pressure is known to occur during hypoxia in a number of mammalian species. The mechanisms involved in the production of this hypertension are, however, not clearly understood. Most previous investigations have been concerned with the effect of short periods of severe hypoxia upon the pulmonary circulation. The effects of mild, prolonged hypoxia are less we...
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Background: One of the important etiologies for cryptogenic stroke is paradoxical embolization secondary to Patent Foramen Ovale (PFO). Foramen ovale can secondarily reopen due to Pulmonary Arterial Hypertension (PAH) which is common among the older age. PAH is known as a frequent and life threatening complication of COPD. The aim of this study was to determine the prevalence of PFO between COP...
متن کاملHigh-altitude pulmonary hypertension.
High-altitude pulmonary hypertension (HAPH) is a specific disease affecting populations that live at high elevations. The prevalence of HAPH among those residing at high altitudes needs to be further defined. Whereas reduction in nitric oxide production may be one mechanism for the development of HAPH, the roles of endothelin-1 and prostaglandin I₂ pathways in the pathogenesis of HAPH deserve f...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2015
ISSN: 2041-1723
DOI: 10.1038/ncomms7863