Progress in molecular biology and translational science.
General Material Designation
[Book]
First Statement of Responsibility
edited by Ya-Xiong Tao.
Volume Designation
Part A /
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Boston :
Name of Publisher, Distributor, etc.
Elsevier/Academic Press,
Date of Publication, Distribution, etc.
2009.
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
1 online resource (xii, 212 pages) :
Other Physical Details
illustrations
INTERNAL BIBLIOGRAPHIES/INDEXES NOTE
Text of Note
Includes bibliographical references and index.
CONTENTS NOTE
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Front Cover; Progress in Molecular Biology and Translational Science; Copyright Page; Contents; Contributors; Preface; Chapter 1: Rhodopsin-Mediated Retinitis Pigmentosa; I. Introduction; II. Rhodopsin Function; A. Retina Structure; B. Rod Cell-Specific Expression of Rhodopsin; C. Classification of Rhodopsin Mutations; III. Mechanisms of Rod Degeneration; A. P23H, VPP: A Model for Misfolded and Mislocalized Rhodopsin Mutants; B. P347S: A Model for a Nonautonomous Pathway and Destabilized Rhodopsin Mutants; C. K296E: A Model for Persistent Signaling and Alternative Signaling Pathways
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B. Clinical Characteristics of Heterozygous CarriersV. Conclusions; References; Chapter 4: The Melanocortin-1 Receptor Gene Polymorphism and Association with Human Skin Cancer; I. Introduction; II. Human Pigmentation and Skin Phototypes; A. The Melanocyte; B. Melanin; C. Melanosome Maturation; D. Melanogenic Enzymes and Pigmentation Genes; E. UVR-Induced DNA Damage; III. The Discovery of MC1R and Its Role in the Regulation of Pigmentation; A. Tanning; B. MC1R-Mediated cAMP Signaling; C. Pheomelanin to Eumelanin ``Switch ́ ́; D. Alternative MC1R Signaling Pathways; E. Calcium Signaling
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F. MAPK/ERK PathwayG. Agouti Signaling Protein; H. beta-Defensin 3; IV. MC1R and the Red Hair Phenotype; A. MC1R Gene Evolution and Population Allele Frequencies; V. MC1R Variant Allele Function; A. Intracellularly Retained; B. Pseudo-Wild Type; C. G-Protein Coupling Defective; D. Altered Ligand Binding; E. Altered Internalization; F. Null Alleles; G. MC1R Variant Function in Coculture; H. Comparison of SNPs in the Melanocortin Receptor Family; VI. MC1R Structure, Activity, and Regulation; A. MC1R Motifs; VII. MC1R and Skin Cancer Risk
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IV. Mechanisms of Cone DegenerationA. Trophic Factors; B. Toxic Factors; C. Metabolic Support; V. Treatments; A. Gene Therapy; B. Vitamin A and Pharmacological Supplementation; C. Transplantation of Stem Cells or Retinal Sheets; VI. Conclusions; References; Chapter 2: Human Diseases Associated with GPR54 Mutations; I. Introduction; II. Structure and Expression of GPR54; III. The GPR54 Ligand; IV. GPR54 and KISS1 Genes in Evolution; V. Kisspeptin/GPR54 Signaling Pathway; VI. KISS1/GPR54 and Cancer; VII. Neuroendocrine Studies; VIII. Expression Studies; IX. gpr54 and kiss1 Knockout Mice
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X. Loss-of-Function Mutations of GPR54XI. The Role of GPR54 in Central Precocious Puberty; XII. Conclusion; References; Chapter 3: Diseases Associated with Growth Hormone-Releasing Hormone Receptor (GHRHR) Mutations; I. Introduction; II. GHRHR Biology; A. GHRHR and Its Ligand; B. Signal Transduction; C. GHRHR Structure; D. GHRHR Organization and Regulation; E. GHRHR Splice Variants; III. GHRHR Mutations and Polymorphisms; A. GHRHR Mutations; B. GHRHR Polymorphisms; IV. Diseases Associated with GHRHR Mutations; A. Clinical Characteristics of Homozygous Individuals
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SUMMARY OR ABSTRACT
Text of Note
G protein-coupled receptors (GPCRs) transduce signals from a diverse array of endogenous ligands, including ions, amino acids, nucleotides, lipids, peptides, and large glycoprotein hormones. They are also responsible for our sensing of exogenous stimuli including photons and odorants. GPCRs regulate almost every aspect of our physiological functions. It is estimated that 40-50% of currently used therapeutic drugs target GPCRs directly or indirectly. Because the current drugs target only a small portion of the GPCRs, opportunities for targeting the remaining GPCRs is enormous. This volume reviews the lateste developments in this rapidly advancing field. * This series provides a forum for discussion of new discoveries, approaches, and ideas * Contributions from leading scholars and industry experts * Reference guide for researchers involved in molecular biology and related fields.
OTHER EDITION IN ANOTHER MEDIUM
International Standard Book Number
0123747570
PARALLEL TITLE PROPER
Parallel Title
G protein-coupled receptors in health and disease.