Embryos, Genes and Birth Defects (2nd edition)

Ferretti - Embryos, Genes and Birth Defects
£81.00 (discounted from £90.00)
£81.00
Authors/editors: Patrizia Ferretti, Andrew Copp, Cheryll Tickle and Gudrun Moore
ISBN: 978-0-470-09010-7
Page count: 548
Publisher: Wiley-Blackwell
Publication year: 2006

The first edition of Embryos, Genes and Birth Defects, edited by the late Peter Thorogood, was a radical new book aimed at bridging the gap between the medical disciplines of embryology and dysmorphology, and recent advances in cellular, molecular and developmental biology. This new edition remains unique in its breadth and brings up to date our understanding of birth defects and of the strategies utilized to gain such knowledge. It features new chapters on human cytogenetics, mutagenesis and the eyes and ears.
The book presents key topics in developmental biology and explains how they provide the foundations for understanding clinical birth defects. The first six chapters introduce concepts and strategies adopted to elucidate developmental anomalies leading to birth defects. The book then focuses on specific organs and reviews the cellular and molecular mechanisms affecting their development and how disruption of these mechanisms by genetic or environmental factors may underlie certain birth defects. The chapters are concise and provide up-to-date coverage of topics in a format that is easily accessible and yet at the forefront of research.

Table of contents:

1. The Relationship between Genotype and Phenotype: Some Basic Concepts
Introduction
The relationship between genotype and phenotype
The role of ‘model systems’
The changing concept of homology

2. Uses of Databases in Dysmorphology
What is a syndrome?
Some of these problems are addressed by dysmorphology databases
Where databases do not help
Dysmorphology databases
How databases work

3. Human Cytogenetics
Introduction
Population cytogenetics
Structural anomalies
The genesis of chromosome abnormalities
Embryo survival
The cause of high levels of chromosome abnormality in human embryos
Relative parental risks – age, translocations, inversions, gonadal and germinal mosaics

4. Identification and Analysis of Genes Involved in Congenital Malformation Syndromes
Gene identification
Biological analysis of genes implicated in birth defect syndromes
Animal models
Why study rare human birth defect syndromes?

5. Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development
Introduction
Transgenic mice
Genetic manipulation using gene targeting in ES cells
Outlook and future developments

6. Chemical Teratogens: Hazards, Tools and Clues
Introduction
Teratogens and human malformations
General strategy in chemical teratogenesis
Valproic acid
Gene–teratogen interaction
Teratogens and phenocopies
Teratogens as manipulative tools
Teratogens as clues
Final comments

7. The Limbs
Developmental anatomy of the human limb
Main classes of limb defects
Contemporary studies on mechanisms of limb development
Limb regeneration
How, when and where experimental studies elucidate abnormal development
Agenda for the future

8. Brain and Spinal Cord
Introduction
Overview of nervous system development
Defects of CNS development: towards a genetic and developmental understanding
Agenda for the future

9. Birth Defects Affecting the Eye
The eye
Development of the eye
Congenital eye defects and paediatric blindness
Gene mutations underlying congenital eye defects
Cellular and molecular mechanisms affecting eye development and how they elucidate the causes of abnormal development
Agenda for the future

10. The Ear
Introduction
Development of the outer and middle ear
Development of the inner ear
Main classes of ear defects
Mechanisms involved in development of the outer and middle ear
Mechanisms underlying inner ear development
Mechanisms underlying development of inner ear sensory epithelia
Mechanisms involved in endolymph homeostasis
The future

11. Development of the Enteric Nervous System in Relation to Hirschsprung’s Disease
Introduction
Anatomy and function of the ENS
The best-characterized developmental defect of the ENS – Hirschsprung’s disease
Cell biology of ENS development
Molecular biology of ENS development and Hirschsprung-like dysplasias
HSCR: current and future treatments
Conclusions

12. The Head
Introduction
Developmental anatomy
Main classes of craniofacial defect
Cellular and molecular mechanisms
Agenda for the future

13. The Heart
Developmental anatomy
Major cell populations needed for heart development
Molecular regulation of heart development
Cardiovascular defects
The Future

14. The Skin
Introduction
Developmental anatomy
Main classes of skin defects
Future perspectives

15. The Vertebral Column
Introduction
Developmental anatomy of the vertebral column
Making the vertebral column
Agenda for the future

16. The Kidney
Introduction
Structure and function
Developmental anatomy of nephrogenesis
Transcription factors
Growth factors and their receptors
Survival/proliferation factors
Cell adhesion molecules
Other molecules
Non-genetic causes of renal malformations
Agenda for the future

17. The Teeth
Developmental anatomy
Main classes of defects
Cellular and molecular mechanisms affecting development
How cellular and molecular developmental mechanisms assist in elucidating the causes of abnormal development
Agenda for the future.

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