Genetic Steroid Disorders

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  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
  • ISBN : 9780128072967
  • Page : 406 pages
  • Rating : 4.5/5 from 103 voters

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The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation in either the anti-Müllerian hormone (AMH) or the AMH type II receptor (AMHR-II) genes and is transmitted as a recessive autosomal trait. Sixty-five families with AMH mutations and 59 with AMHR-II mutations have been reported to date. Clinical symptoms include cryptorchidism and/or inguinal hernia, and are identical for ligand and receptor mutations. However, the prepubertal serum level of AMH is nearly undetectable in AMH mutations, whereas it is close to normal in receptor mutations. Infertility is the main complication. Construction of molecular models for the AMH and AMHR-II has provided insight into how some mutations affect the biosynthesis and processing of these molecules, and how other mutations affect signal transduction.

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Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Nathalie Josso,Richard L. Cate,Jean-Yves Picard
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072967
GET THIS BOOKGenetic Steroid Disorders

The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation in either the anti-Müllerian hormone (AMH) or the AMH type II receptor (AMHR-II) genes and is transmitted as a recessive autosomal trait. Sixty-five families with AMH mutations and 59 with AMHR-II mutations have been reported to date. Clinical symptoms include cryptorchidism and/or inguinal hernia, and are identical for ligand

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Perrin C. White
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072813
GET THIS BOOKGenetic Steroid Disorders

Humans have two isozymes with 11β-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, is expressed at high levels and is regulated by ACTH. CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated mainly by angiotensin II and potassium levels. The latter enzyme also has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Mutations in the CYP11B1 gene cause

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
  • Publisher : Academic Press
  • Release Date : 2013-08-22
  • ISBN : 9780123914675
GET THIS BOOKGenetic Steroid Disorders

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Oksana Lekarev,Denesy Mancenido,Alan Parsa,Tony Yuen
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072783
GET THIS BOOKGenetic Steroid Disorders

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive genetic disorders that arise from defective steroidogenesis. The 21-hydroxylase deficiency (21OHD) is the most common form of CAH, accounting for more than 90% of cases. It is the most common disorder of sexual development (DSD) in females. The gene is encoded by CYP21A2, which is located on the short arm of chromosome 6 (6p21.3). The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to

Growth Disorders 2E

Growth Disorders 2E
  • Author : Chris Kelnar,Martin Savage,Paul Saenger,Chris Cowell
  • Publisher : CRC Press
  • Release Date : 2007-06-29
  • ISBN : 9781444113730
GET THIS BOOKGrowth Disorders 2E

Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This

Essentials of Nephrology, 2/e

Essentials of Nephrology, 2/e
  • Author : kasi Visveswaran
  • Publisher : BI Publications Pvt Ltd
  • Release Date : 2009
  • ISBN : 8172253230
GET THIS BOOKEssentials of Nephrology, 2/e

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders: From Bench to Bedside

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders: From Bench to Bedside
  • Author : Rebecca Ann Muhle,Ellen J. Hoffman,Hanna E. Stevens,Devanand Sadanand Manoli,Jeremy Veenstra-VanderWeele
  • Publisher : Frontiers Media SA
  • Release Date : 2022-02-02
  • ISBN : 9782889742691
GET THIS BOOKMolecular and Genetic Mechanisms in Neurodevelopmental Disorders: From Bench to Bedside

Textbook of Nephro-Endocrinology

Textbook of Nephro-Endocrinology
  • Author : Ajay K. Singh,Gordon H. Williams
  • Publisher : Academic Press
  • Release Date : 2009-01-12
  • ISBN : 0080920462
GET THIS BOOKTextbook of Nephro-Endocrinology

The Textbook of Nephro-Endocrinology is the definitive translational reference in the field of nephro-endocrinology, investigating both the endocrine functions of the kidneys and how the kidney acts as a target for hormones from other organ systems. It offers researchers and clinicians expert, gold-standard analyses of nephro-endocrine research and translation into the treatment of diseases such as anemia, chronic kidney disease (CKD), rickets, osteoporosis, and, hypoparathyroidism. Investigates both the endocrine functions of the kidneys and how the kidney acts as a

Genetic Risk Factors for Late-Onset Alzheimer's Disease in Chinese

Genetic Risk Factors for Late-Onset Alzheimer's Disease in Chinese
  • Author : Lu-Hua Chen
  • Publisher : Open Dissertation Press
  • Release Date : 2017-01-26
  • ISBN : 1361304634
GET THIS BOOKGenetic Risk Factors for Late-Onset Alzheimer's Disease in Chinese

This dissertation, "Genetic Risk Factors for Late-onset Alzheimer's Disease in Chinese" by Lu-hua, Chen, 陈璐华, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author.

Peripheral Nerve Disorders

Peripheral Nerve Disorders
  • Author : Davide Pareyson,Chiara Marchesi,Ettore Salsano
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-17
  • ISBN : 9780128078785
GET THIS BOOKPeripheral Nerve Disorders

Charcot–Marie–Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics
  • Author : Peter C. K. Leung,Jie Qiao
  • Publisher : Academic Press
  • Release Date : 2018-08-28
  • ISBN : 9780128135716
GET THIS BOOKHuman Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of

Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function, 2nd Edition

Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function, 2nd Edition
  • Author : Amit V. Pandey,Colin J. Henderson,Yuji Ishii,Michel Kranendonk,Wayne L. Backes,Ulrich M. Zanger
  • Publisher : Frontiers Media SA
  • Release Date : 2018-06-20
  • ISBN : 9782889454914
GET THIS BOOKRole of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function, 2nd Edition

Genetic variations may change the structure and function of individual proteins as well as affect their interactions with other proteins and thereby impact metabolic processes dependent on protein-protein interactions. For example, cytochrome P450 proteins, which metabolize a vast array of drugs, steroids and other xenobiotics, are dependent on interactions with redox and allosteric partner proteins for their localization, stability, (catalytic) function and metabolic diversity (reactions). Genetic variations may impact such interactions by changing the splicing and/or amino acid sequence

Anabolic Bible 2E

Anabolic Bible 2E
  • Author : Johann Reinhardt
  • Publisher : Unknown
  • Release Date : 2015-05-17
  • ISBN : 1512235601
GET THIS BOOKAnabolic Bible 2E

New, 2nd edition. When compared to first edition it is significantly improved and updated, offering new and better explanation of important facts from previous edition. It contains detailed description of over 270 chemical compounds and every data relevant to athletes and scientists.This edition is literally made for everyone who wants the most comprehensive explanation and the most accurate information about any drug, legal or illegal. It will be of great help to every athlete and especially medical professionals who are

Dry Skin and Moisturizers

Dry Skin and Moisturizers
  • Author : Marie Loden,Howard I. Maibach
  • Publisher : CRC Press
  • Release Date : 1999-12-06
  • ISBN : 0849375207
GET THIS BOOKDry Skin and Moisturizers

Dry Skin and Moisturizers: Chemistry and Function presents new information relating to skin biochemistry and pathological changes seen in various dry skin disorders. The book examines the pharmacology of ingredients in moisturizing preparations, providing a broad overview of formulations as well as detailed information on ingredients. Featuring contributions from leading researchers from around the world, the book also outlines general principles for testing and evaluation of effects on the skin, with particular emphasis on safety assessment. This comprehensive book is

Peripheral Nerve Disorders

Peripheral Nerve Disorders
  • Author : Jean-Michel Vallat,Joachim Weiss
  • Publisher : John Wiley & Sons
  • Release Date : 2014-08-01
  • ISBN : 9781118618417
GET THIS BOOKPeripheral Nerve Disorders

Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable