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Title Genome and disease / volume editor, Jean-Nicolas Volff
Published Basel ; New York : Karger, ©2006

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Description 1 online resource (vii, 246 pages) : illustrations (some color)
Series Genome dynamics, 1660-9263 ; v. 1
Genome dynamics ; v. 1. 1660-9263
Contents The genomic basis of disease, mechanisms and assays for genomic disorders / P. Stankiewicz, J.R. Lupski -- Gross deletions and translocations in human genetic disease / S.S. Abeysinghe, N. Chuzhanova, D.N. Cooper -- Nucleotide excision repair and related human diseases / V. Bergoglio, T. Magnaldo -- Oxidative damage to DNA in non-malignant disease / M.D. Evans, M.S. Cooke -- Dominant non-coding repeat expansions in human disease / K.A. Dick [and others] -- Telomeres and telomerase in stem cells during aging and disease / Z. Ju, K.L. Rudolph -- Retrotransposable elements and human disease / P.A. Callinan, M.A. Batzer -- The spindle checkpoint and chromosomal stability / W. Qi, H. Yu -- Protein kinases that regulate chromosome stability and their downstream targets / H. Nojima -- The role of the APC tumor suppressor in chromosomal instability / P. Alberici, R. Fodde -- c-Myc, genomic instability, and disease -- F. Kuttler, S. Mai -- Nijmegen breakage syndrome and functions of the responsible protein, NBS1 / A. Antoccia [and others] -- Werner syndrome, aging, and cancer / A. Ozgenc, L.A. Loeb -- Fanconi anemia / R. Kalb [and others]
Summary Cancer and other genetic human diseases are caused by a variety of mutations, ranging from subtle sequence changes to larger genomic rearrangements and alterations in chromosome number (aneuploidy). With contributions by reputed experts, this book aims to update the knowledge on the multiple mechanisms of genomic instability leading to human disease. Emphasis is given to the different types of genomic sequences involved in disease-related genomic rearrangements as well as to the various exogenous factors increasing the frequency of mutations. Several chapters are dedicated to the dysfunction o
Bibliography Includes bibliographical references and indexes
Notes Print version record
Subject Genetic disorders.
Medical genetics.
Genomes.
Genetic Diseases, Inborn
Genome
Genetics, Medical
Genomic Instability
HEALTH & FITNESS -- Diseases -- Genetic.
MEDICAL -- Genetics.
Genetic disorders
Genomes
Medical genetics
Genom -- Humangenetik -- Aufsatzsammlung.
Humangenetik -- Genom -- Aufsatzsammlung.
Erbkrankheit -- Aufsatzsammlung.
Form Electronic book
Author Volff, Jean-Nicolas
ISBN 1423796896
9781423796893
9783318012903
3318012904
9783805580298
3805580290