Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors [0.03%]
遗传决定的疾病/多发性内分泌肿瘤综合征致癌危险性的概述
Abel Decmann,Attila Patócs,Peter Igaz
Abel Decmann
In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. S...
Glucocorticoid Resistance [0.03%]
糖皮质激素抵抗
Nicolas C Nicolaides,Evangelia Charmandari
Nicolas C Nicolaides
Primary generalized glucocorticoid resistance or Chrousos syndrome is a rare disorder, which affects all tissues expressing the human glucocorticoid receptor. It is characterized by generalized, partial tissue insensitivity to glucocorticoi...
Luca Persani,Irene Campi
Luca Persani
Thyroid hormone (TH) action is crucial for the development of several tissues.A number of syndromes are associated with reduced responsiveness to thyroid hormones, expanding the original definition of thyroid hormone resistance, firstly des...
Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, etc.) [0.03%]
简要概述最重要的分子遗传学方法（PCR、qPCR、微阵列、下一代测序等）
Henriett Butz,Attila Patócs
Henriett Butz
Molecular genetic methods have become an organic part of everyday clinical practice. In the past, molecular diagnostic tests were carried out for genetic diagnosis of a particular monogenic disease. In these situations the tests itself were...
Pál Perge,Peter Igaz
Pál Perge
In this brief chapter, clinically very important topics of family screening and genetic counseling are discussed that are also pivotal in endocrine genetics. Genetic screening makes possible to diagnose a genetic disease at an early stage o...
Annamária Kövesdi,Attila Patócs
Annamária Kövesdi
Increasing data about the human genome and associations between certain genetic regions with various conditions and diseases positioned human genetics at the top of the most emerging fields in medicine. Many diagnostics algorithms and thera...
Basic Concepts of Genetics [0.03%]
遗传学的基本概念
Pál Perge,Peter Igaz
Pál Perge
Genetics is the study of heredity. In this introductory chapter of the book Genetics of Endocrine Diseases and Syndromes, we present the basic terms of genetics and basic physiological and pathogenic molecular processes that are implicated ...
Conclusions and Perspectives [0.03%]
结论与展望
Roderick Adrian Slavcev
Roderick Adrian Slavcev
The dawn of nanoparticle-encapsulated genes is a revolutionary move in gene therapy. It promises to specifically and safely transport genetic cargo through biological systems within a non-viral "Trojan horse" system.
Roderick Adrian Slavcev,Chi Hong Sum,Jesse St Jean et al.
Roderick Adrian Slavcev et al.
Fluorescent-based visualization techniques have long been used to monitor biological activity. This chapter explores the delivery of reporter genes as a means to assay and track activity in biological systems. Bioluminescence is the product...
Specific Systems for Imaging [0.03%]
特定成像系统
Chi Hong Sum,Samantha Marisha Shortall,Jessica Antoinetta Nicastro et al.
Chi Hong Sum et al.
Microscopy allows for the characterization of small objects invisible to the naked eye, a technique that, since its conception, has played a key role in the development across nearly every field of science and technology. Given the nanomete...