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This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
The vast expansion in research on tumorigenesis has greatly increased our understanding of tumor development in patients with inherited endocrine tumor syndromes. This book provides an up-to-date summaryfrom clinical basics and latest follow-up guidelines to the most recent molecular findings in multiple endocrine neoplasia Type I syndrome. Articles have been assembled by acknowledged experts in their respective fields to provide current perspectives on the clinical and genetic backgroundsofthis syndrome and to review carefully the latest discoveries concerning the possible functions and interactions ofmenin, the protein encoded by the MEN1gene,including itspossible role incell cycle regulat...
Functional evidence obtained from somatic cell fusion studies indicated that a group of genes from normal cells might replace or correct a defective function of cancer cells. Tumorigenesis that could be initiated by two mutations was established by the analysis of hereditary retinoblastoma, which led to the eventual cloning of RB1 gene. The two-hit hypothesis helped isolate many tumor suppressor genes (TSG) since then. More recently, the roles of haploinsufficiency, epigenetic control, and gene dosage effects in some TSGs, such as P53, P16 and PTEN, have been studied extensively. It is now widely recognized that deregulation of growth control is one of the major hallmarks of cancer biological capabilities, and TSGs play critical roles in many cellular activities through signaling transduction networks. This book is an excellent review of current understanding of TSGs, and indicates that the accumulated TSG knowledge has opened a new frontier for cancer therapies.
This volume comprises the invited plenary lectures and contributed papers presented at the WorldMedLab and the EuroMedLab in Berlin, May 2011 with more than 5.000 participants. The contributions in this volume provide a valuable and wide-ranging overview of current research in Laboratory Medicine and cognate disciplines. Special focus is given to Aging Society (neurological diseases), Tumors, Organ specific dysfunctions and Future of Laboratory Medicine.
Adding to a vitally important cycle of publications covering the latest research developments in our understanding of neoplasms affecting the human central nervous system, this edition focuses on numerous aspects of pineal, pituitary, and spinal tumors. As with the previous volumes in the series, this latest work addresses a central imperative in cancer research—the need to standardize classifications, written definitions and investigative guidelines in order to achieve a measure of shared objectivity among academics engaged in one of the most important medical endeavors of our era. It brings together the very latest work by oncologists, neurosurgeons, physicians, research scientists, and ...