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This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic. Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reported in the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs. Furthermore, supernumerary small ring chromosomes and the patient’s perspective are addressed—the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing. This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.

Medical genetics. --- Molecular genetics. --- Cancer. --- Medical Genetics. --- Molecular Genetics. --- Clinical Genetics. --- Cancer Biology.

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The book provides a comprehensive overview of the use of non-invasive prenatal screening (NIPS) in clinical practice. It covers advanced genomic approaches and operational strategies related to NIPS. It aims to fill a gap by offering a thorough historical background and genesis of NIPS technology, including its methodology, clinical utility, challenges, and future directions. The book is divided into three sections: Section I discusses the advent of NIPS, Section II addresses detection strategies and clinical implementation, and Section III explores the challenges and prospects of NIPS technology. The book benefits specialists who practice prenatal medicine as well as reproductive specialists, genetic councilors, research scholars and postgraduate medical students of obstetrics and gynecology.

Gynecology. --- Reproductive health. --- Medical genetics. --- Developmental genetics. --- Gynecology. --- Reproductive Medicine. --- Clinical Genetics. --- Developmental Genetics.

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This volume contains a comprehensive collection of laboratory protocols used by researchers to analyze varied aspects of non-alcoholic steatohepatitis (NASH). The chapters in this book cover topics such as methods for histological diagnosis of NASH; the purpose of generating an in vivo NASH model; protocols for isolating hepatocytes and Kupffer cells, bone marrow derived macrophages, and adipocytes; techniques to develop human pluripotent stem cells-derived liver organoids; single-cell and RNA-sequencing; and a description of how to extract exosomes and exosomal miRNAs from mesenchymal stem cells. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Thorough and practical, Non-Alcoholic Steatohepatitis: Methods and Protocols is a valuable resource for new and experiences investigators studying NASH, and serves as an essential reference on NASH for basic and clinical researchers and students. .

Medical genetics. --- Stem cells. --- Clinical Genetics. --- Stem Cell Biology. --- Colony-forming units (Cells) --- Mother cells --- Progenitor cells --- Cells --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects

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This book aims at providing an up-to-date report to cover key aspects of existing problems in the emerging field of targets in gene therapy. With the contributions in various disciplines of gene therapy, the book brings together major approaches: Target Strategy in Gene Therapy, Gene Therapy of Cancer and Gene Therapy of Other Diseases. This source enables clinicians and researchers to select and effectively utilize new translational approaches in gene therapy and analyze the developments in target strategy in gene therapy.

Medical genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects --- Medical genetics

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Autoimmune disorders are known to affect a substantial number of people worldwide, demonstrating a gender bias and are the second largest cause of chronic illness. Recently, the attention has been focused on lifestyle changes as a major factor in the rise of autoimmune disease frequency. The two sections of this book are focused on the new opportunities for moving research forward, leading to a new approach to prevention and treatment of autoimmune diseases. A better understanding of the mechanisms of gene expression and triggering signaling pathways, which is involved in autoimmune pathogenesis simultaneously with current data for the interaction of microbiota with human immune system, will help to better understand the immune imbalance implicated in autoimmunity.

Medical genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects --- Medical genetics