DNA Repair and Human Disease

DNA Repair and Human Disease highlights the molecular complexities of a few well-known human hereditary disorders that arise due to perturbations in the fidelity of diverse DNA repair machineries.

Some disorders described in DNA Repair and Human Disease will appeal to the students and research workers at all levels to understand how mutational inactivation of a single gene leads to complex phenotypic traits by overlapping deficiencies in different DNA metabolic activities including DNA repair Includes supplementary material: sn.pub/extras

Inhalt
Human Premature Aging Disorders and Dysfunction of DNA Repair.- DNA Repair Aspects for RecQ Helicase Disorders.- Trichothiodystrophy.- Roles of the BRCA1 and BRCA2 Breast Cancer Susceptibility Proteins in DNA Repair.- Radiosensitivity of Cells Derived from Down Syndrome Patients.- The Fanconi Anemia/BRCA Pathway.- Is Ataxia Telangiectasia a Result of Impaired Coordination between DNA Repair and Cell Cycle Checkpoint Regulators?.- Mechanisms of DNA Damage and Repair in Alzheimer Disease.- Orchestration of Telomeres and DNA Repair Factors in Mammalian Cells.- Defective Solar Protection in Xeroderma Pigmentosum and Cockayne Syndrome Patients.