Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy, Navon Daniel

Автор: Helena M. Christoffersen
Название: Gene Mutations: Causes and Effects
ISBN: 1536169846 ISBN-13(EAN): 9781536169843
Издательство: Nova Science
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Цена: 77080.00 T
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Описание: 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.

Автор: G. Obe
Название: Mutations in Man
ISBN: 3642695329 ISBN-13(EAN): 9783642695322
Издательство: Springer
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Цена: 102480.00 T
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Описание: In no case has it been shown unequivocally that physical or chemical mutagens have led to an elevation of the mutation rate in the germ cells of man, but in view of the huge body of experi- mental data this seems to be a problem of detection.

Автор: Keshav K. Singh
Название: Mitochondrial DNA Mutations in Aging, Disease and Cancer
ISBN: 3662125110 ISBN-13(EAN): 9783662125113
Издательство: Springer
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Цена: 113190.00 T
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Описание: Many human genetic diseases associated with blood, brain, colon, ear, eye, heart, kidney, liver, muscle, and pancreas are caused by mutations in mitochondrial DNA. Mitochondrial DNA mutations have now been associated with aging as well as age-related degenerative diseases such as Parkinson`s, Alzheimer`s, and Huntington`s diseases.

Автор: Ismail Adeniran
Название: Modelling the Short QT Syndrome Gene Mutations
ISBN: 3319071998 ISBN-13(EAN): 9783319071992
Издательство: Springer
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Цена: 130430.00 T
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Описание: The Short QT Syndrome (SQTS) is characterized by abbreviated QT intervals on the electrocardiogram, increased risk of cardiac arrhythmias and sudden death. Although several gene mutations have been identified in SQT patients, the role of these mutations in promoting arrhythmogenesis is still not completely understood. Consequently, this thesis employs multidisciplinary approaches to develop a 3D virtual heart, which is then used to elucidate how the short QT syndrome facilitates and maintains ventricular arrhythmias and to determine its effects on ventricular mechanical contraction. The findings in this thesis provide a comprehensive and mechanistic explanation for a number of gene mutations associated with potassium channels in terms of susceptibility to arrhythmia. The multiphysics models developed provide a powerful platform for identifying the root causes of various arrhythmias and investigating therapeutic interventions for these diseases. The thesis was examined by Prof. Chris Huang of the University of Cambridge, the most authoritative figure in cardiac electrophysiology, who has described the work as “outstanding.”

Автор: G.P. Pfeifer
Название: Technologies for Detection of DNA Damage and Mutations
ISBN: 1489903038 ISBN-13(EAN): 9781489903037
Издательство: Springer
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Цена: 148020.00 T
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Описание: Man-made carcinogens, natural genotoxic agents in the environment, as well as ionizing and ultraviolet radiation can damage DNA and are a constant threat to genome integrity.