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10.1161/CIRCRESAHA.115.303404 http://scihub22266oqcxt.onion/10.1161/CIRCRESAHA.115.303404 C4137413!4137413 !24951767     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24951767 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Circ+Res 2014 ; 115 (1 ): 189-202 Nephropedia Template TP {{tp|p=24951767 |t=2014. The genetics of pulmonary arterial hypertension |pdf=|usr=}}{{24951767 }} gab.com Text The genetics of pulmonary arterial hypertension JO: Circ Res http://www.kidney.de/pget.php?&tw=1&pmid=24951767 #FOAvip Pulmonary arterial hypertension (PAH) is a progressive and fatal disease for which there is an ever-expanding body of genetic and related pathophysiological information on disease pathogenesis. Many germline gene mutations have now been described, including mutations in the gene coding bone morphogenic protein receptor type 2 (BMPR2) and related genes. Recent advanced gene-sequencing methods have facilitated the discovery of additional genes with mutations among those with and those without familial forms of PAH (CAV1, KCNK3, EIF2AK4). The reduced penetrance, variable expressivity, and female predominance of PAH suggest that genetic, genomic, and other factors modify disease expression. These multi-faceted variations are an active area of investigation in the field, including but not limited to common genetic variants and epigenetic processes, and may provide novel opportunities for pharmacological intervention in the near future. They also highlight the need for a systems-oriented multi-level approach to incorporate the multitude of biological variations now associated with PAH. Ultimately, an in-depth understanding of the genetic factors relevant to PAH provides the opportunity for improved patient and family counseling about this devastating disease. Twit Text FOAVip The genetics of pulmonary arterial hypertension ????Circ Res http://www.kidney.de/pget.php?&tw=1&pmid=24951767 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24951767 #FOAvip English Wikipedia <ref>{{Cite pmid|24951767 }}</ref> The genetics of pulmonary arterial hypertension #MMPMID24951767 Austin ED ; Loyd JE Circ Res 2014[Jun]; 115 (1 ): 189-202 PMID24951767 show ga Pulmonary arterial hypertension (PAH) is a progressive and fatal disease for which there is an ever-expanding body of genetic and related pathophysiological information on disease pathogenesis. Many germline gene mutations have now been described, including mutations in the gene coding bone morphogenic protein receptor type 2 (BMPR2) and related genes. Recent advanced gene-sequencing methods have facilitated the discovery of additional genes with mutations among those with and those without familial forms of PAH (CAV1, KCNK3, EIF2AK4). The reduced penetrance, variable expressivity, and female predominance of PAH suggest that genetic, genomic, and other factors modify disease expression. These multi-faceted variations are an active area of investigation in the field, including but not limited to common genetic variants and epigenetic processes, and may provide novel opportunities for pharmacological intervention in the near future. They also highlight the need for a systems-oriented multi-level approach to incorporate the multitude of biological variations now associated with PAH. Ultimately, an in-depth understanding of the genetic factors relevant to PAH provides the opportunity for improved patient and family counseling about this devastating disease. |Alleles [MESH] |Animals [MESH] |Bone Morphogenetic Protein Receptors, Type II/genetics [MESH] |Caveolin 1/genetics [MESH] |Epigenesis, Genetic [MESH] |Familial Primary Pulmonary Hypertension [MESH] |Genetic Testing [MESH] |Gonadal Steroid Hormones/metabolism [MESH] |Humans [MESH] |Hypertension, Pulmonary/*genetics [MESH] |Mutation [MESH] |Nerve Tissue Proteins/genetics [MESH] |Potassium Channels, Tandem Pore Domain/genetics [MESH] |Protein Precursors/genetics [MESH]The genetics of pulmonary arterial hypertension (epmc).pdf DeepDyve Pubget Overpricing