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Telomeres in Health and Disease
1st Edition, Volume 125 - June 26, 2014
Editor: Rodrigo Calado
Language: English
Hardback ISBN:9780123978981
9 7 8 - 0 - 1 2 - 3 9 7 8 9 8 - 1
eBook ISBN:9780123979094
9 7 8 - 0 - 1 2 - 3 9 7 9 0 9 - 4
This special volume of Progress in Molecular Biology and Translational Science focuses on telomeres in health and disease. This volume covers a variety of topics with reviews w…Read more
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This special volume of Progress in Molecular Biology and Translational Science focuses on telomeres in health and disease. This volume covers a variety of topics with reviews written by experts in the field.
Contributions from specialists in telomere diseases
Informs and updates on how telomere dysfunction may cause disease in humans
PhDs in the fields of molecular and cellular biology and MDs and physician-scientists in internal medicine, hematology, oncology, pulmonology, and gastroenterology.
Preface
Chapter One: Telomere and Telomerase Biology
Abstract
1 Introduction
2 The General Structure of Telomeric DNA
3 Replication of Telomeres
4 Telomeric Chromatin: Implications for End Protection, Telomere Replication, and Telomere Length Regulation
5 TERRA: The Telomeric RNA Transcript
6 Consequences of Telomere Deprotection
Acknowledgments
Chapter Two: Human Telomeres and Telomere Biology Disorders
Abstract
1 Introduction
2 Telomere Biology in Humans
3 What Is a TBD?
4 Clinical Features of the TBDs
5 Germ-Line Genetics of TBDs
6 Diagnosing TBDs
7 Genetic Counseling Considerations
8 Clinical Management
9 Summary and Future Directions
Acknowledgments
Chapter Three: Telomere Biology in Stem Cells and Reprogramming
Abstract
1 Introduction
2 Telomere Homeostasis in Stem Cells
3 Cellular Reprogramming
4 Conclusions
Chapter Four: Telomere Dynamics and Aging
Abstract
1 Introduction: Telomere Structure, Determinants of Telomere Dynamics, Measurement Parameters, and Regulation Mechanisms
2 Telomere Connection to the Characteristics of Aging: Cell Senescence and Apoptosis, Mitochondrial Function, and Metabolism
3 Telomeres Dynamics in Early Embryonic Development, Stem Cells, and Infancy
4 Telomere Dynamics and Aging-Related Disorders
5 Perspective
Acknowledgments
Chapter Five: Telomeres in Molecular Epidemiology Studies
Abstract
1 Introduction
2 TL in Accessible Tissue as a Surrogate for the Disease Site
3 Considerations in Observational Studies of TL
4 Epidemiological Evaluation of the Role of Telomeres in Human Health
5 The Effect of TL Method of Measurement on Study Results
6 Analytic Considerations in TL Epidemiology Studies
7 Conclusions
Acknowledgment
Chapter Six: Telomere Dysfunction and Hematologic Disorders
Abstract
1 Introduction
2 Bone Marrow Failure
3 Dyskeratosis Congenita
4 Disease Anticipation
5 Aplastic Anemia
6 Clinical Management in Bone Marrow Failure Syndromes
7 Telomere Shortening in Other Bone Marrow Failure Syndromes
8 Animal Models
9 Telomeres and Hematologic Cancers
Chapter Seven: The Role of Telomeres in Liver Disease
Abstract
1 Telomeres and Telomerase, an Overview
2 Telomere Shortening and Disease Progression
3 The Role of Telomere Dysfunction in Cirrhosis Formation
4 Association of Telomerase Mutations With Liver Cirrhosis
5 The Role of Telomeres in Metabolic Liver Disease
6 The Role of Telomeres During Carcinogenesis
7 Chromosomal Instability and Hepatocarcinogenesis
Rodrigo Calado received his MD in 1997 and PhD in 2003 both from the University of São Paulo, Brazil. He was trained in hematology and did his postdoctoral fellowship at the U. S. National Institutes of Health in Bethesda, Maryland with Dr. Neal S. Young, where he also worked as a Staff Scientist between 2007 and 2011. He is currently Associate Professor of Medicine at the University of São Paulo in Ribeirão Preto, Brazil. Dr. Calado was the first to report on telomerase enzyme mutations in humans causing disease (aplastic anemia) and found that telomerase complex mutations also predisposed to leukemia and liver cirrhosis. He also demonstrated that short telomeres increase chromosome instability in humans and that sex hormones up-regulate telomerase function in hematopoietic cells.
Affiliations and expertise
National Institutes of Health, Bethesda, MD, USA
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