Gene Mutations: Causes and Effects

Helena M. Christoffersen (Editor)

Series: Genetics – Research and Issues
BISAC: MED107000



Volume 10

Issue 1

Volume 2

Volume 3

Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick


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A gene is a DNA sequence that can be transcribed into an RNA molecule and transferred to offspring organisms. Changes in DNA sequences that determine the structure and function of a gene are called mutations. Gene Mutations: Causes and Effects opens by exploring the physical, chemical, and biological agents that cause mutations interact with DNA, leading to genetic instability.

Recent advances in next-generation sequencing have led to the discovery of new causative genes or those mutations. The authors describe the phenotypes and gene mutations, discussing genotype-phenotype correlations compared with previous reports.

Lastly, one study analyses all conflicting data concerning the amplification of the ESR1 gene, particularly its ambiguous prevalence in both untreated tumors and tumors either responsive or unresponsive to antiestrogen therapy.
(Imprint: Nova Medicine and Health)


Chapter 1. Types of Gene Mutations and Their Mechanisms
(Mehmet Buyukleyla, Eyyup Rencuzogullari, Muhsin Aydin and Mehmet Arslan, Vocational School of Health Services, Ardahan University, Ardahan, Turkey, and others)

Chapter 2. Gene Mutations of Hereditary Motor Neuron Diseases
(Haruo Shimazaki, MD, PhD, Division of Neurology, Department of Internal Medicine, Jichi Medical University School of Medicine, Tochigi, Japan)

Chapter 3. ESR1 Gene Amplification in Breast Cancers Is an Effort for DNA Stabilization and a Consequential Tumor Response
(Zsuzsanna Suba, National Institute of Oncology, Department of Molecular Pathology, Budapest, Hungary)


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