Read e-book online G Proteins, Receptors, and Disease PDF

By Allen M. Spiegel MD (auth.), Allen M. Spiegel MD (eds.)

ISBN-10: 0896034305

ISBN-13: 9780896034303

ISBN-10: 1461218020

ISBN-13: 9781461218029

ISBN-10: 1461272904

ISBN-13: 9781461272908

More than a set of assessment articles, G Proteins, Receptors, and ailment summarizes intensive the nation of our wisdom this day bearing on not just how cells converse through G-protein-coupled sign transduction strategies, but in addition how defects in those proteins and their receptors could cause severe human ailment related to many various organ structures. Written via best investigators, each one bankruptcy describes intimately the constitution and serve as of a specific G protein or receptor, outlines attainable mutations, and discusses totally the molecular pathogenesis of linked ailments. Diagnostic and healing implications also are mentioned while relevant.

In its designated combination of state of the art uncomplicated technological know-how and scientific drugs, G Proteins, Receptors, and sickness deals deep insights into the physiological importance of this key sign transduction pathway, in addition to into the molecular foundation of illnesses starting from weight problems to malignancy. the elemental figuring out of the complicated sign transduction method completed the following presents an organization origin for destiny efforts to avoid and medication those diseases.

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Coleman DE, Berghuis AM, Lee E, Linder ME, Gilman AG, Sprang SR Structures of active conformations of G ia1 and the mechanism of GTP hydrolysis. Science 1994;265: 1405-1412. 8. Wall MA, Coleman DE, Lee E, Ifiiguez-Lluhi JA, Posner BA, Gilman AG, Sprang SR The structure of the G-protein heterotrimer Gial~IY2' Cell 1995;83: 1047-1058. 9. Yamamoto S, Sippel KC, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997;15:175-178. 10.

The severity of the AHO phenotype varies greatly between patients with Gs deficiency, with some patients showing few (11) or no (140) somatic features. Although Gs deficiency is presumed to have a major role in the pathogenesis of AHO, the role of downstream pathways (abnormal cAMP generation vs other Gs-coupled effector pathways) is poorly established. 40 Weinstein The most characterisitic feature of AHO is brachydactyly, which involves the phalanges of the hands and feet in either a symmetric or asymmetric manner.

Gnas maps within a region that is implicated as having one or more imprinted genes (71,72). Four major species of human Gas cDNA have been identified and appear to result from alternative splicing of a single gene (68,73). Two long and two short forms are the result of the splicing in or out of exon 3, respectively, and correspond to the long and short forms of Gas identified on immunoblots. Further heterogeneity is produced by the use of 2 alternative 3' splice sites for intron 3, resulting in the presence or absence of an extra CAG codon at the junction of the exon 3 and 4 coding sequences.

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G Proteins, Receptors, and Disease by Allen M. Spiegel MD (auth.), Allen M. Spiegel MD (eds.)

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