By Allen M. Spiegel MD (auth.), Allen M. Spiegel MD (eds.)
More than a set of assessment articles, G Proteins, Receptors, and ailment summarizes extensive the kingdom of our wisdom this present day touching on not just how cells converse through G-protein-coupled sign transduction methods, but additionally how defects in those proteins and their receptors may cause critical human sickness regarding many alternative organ platforms. Written by way of best investigators, each one bankruptcy describes intimately the constitution and serve as of a specific G protein or receptor, outlines attainable mutations, and discusses absolutely the molecular pathogenesis of linked ailments. Diagnostic and healing implications also are mentioned while relevant.
In its special mix of state of the art uncomplicated technological know-how and scientific drugs, G Proteins, Receptors, and ailment deals deep insights into the physiological importance of this key sign transduction pathway, in addition to into the molecular foundation of ailments starting from weight problems to malignancy. the elemental knowing of the advanced sign transduction strategy completed right here presents a company starting place for destiny efforts to avoid and remedy those diseases.
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23. Gromoll J, Simoni M, Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;81: 1367-1370. 24. Arvanitakis L, Geras-Raaka E, Varma A, Gershengorn MC, Cesarman E. Human herpesvirus KSHV encodes a constitutively active G-protein-coupled receptor linked to cell proliferation. Nature 1997;385:347-350. 25. Gurich RW, Beach RE, Caflisch CR. Cloning of the a-subunit of G, protein from spontaneously hypertensive rats.
Although cAMP is the most well-studied second messenger generated by PTH and is important for PTH action, it is likely that other effector pathways also have a significant role in PTH action. Administration of exogenous PTH increases both urinary (7,18) and plasma (36) cAMP. These result from PTH action on the renal proximal tubule and are useful clinically as tests of renal responsiveness to PTH (7,36). Gs activation leads to stimulation of adenylyl cyclase, the enzyme that catalyzes formation of cAMP from ATP and Mg2+.
Chapter 1 / Introduction 21 14. Nathans 1. In the eye of the beholder: visual pigments and inherited variation in human vision. Cell 1994;78:357-360. 15. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genetics 1992;1:209-213. 16. Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CRS, Orth U, Oehlmann R, Gal A. Missense rhodopsin mutation in a family with recessive RP.
G Proteins, Receptors, and Disease by Allen M. Spiegel MD (auth.), Allen M. Spiegel MD (eds.)