The molecular basis of single-gene Mendelian disorders resulting from gain or loss of function is being clarified at a rapid pace. Progress in the genetics of common disease, by contrast, has been frustratingly limited, as we discuss by reference to essential hypertension (EH). The application of standard genetic paradigms to hypertension research has yielded remarkable findings. Arterial pressure...... hiện toàn bộ
Yang Yong, Dib‐Hajj Sulayman D., Waxman Stephen G.
SCN9A, the gene which encodes voltage‐gated sodium channel Nav1.7, is located on human chromosome 2 within a cluster of other members of this gene family. Nav1.7 is present at high levels in most peripheral nociceptive neurons in dorsal root ganglion (DRG) and in sympathetic neurons. In addition to its focal tissue‐specific expression, Nav1.7 is distinguished by its ability to amplify small depola...... hiện toàn bộ