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36 - Hereditary disorders of DNA repair and DNA damage tolerance that predispose to neoplastic transformation
- from Part 2.4 - Molecular pathways underlying carcinogenesis: DNA repair
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- By Errol C. Friedberg, Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA, Roger A. Schultz, Signature Genomics, Spokane,WA, USA
- Edited by Edward P. Gelmann, Columbia University, New York, Charles L. Sawyers, Memorial Sloan-Kettering Cancer Center, New York, Frank J. Rauscher, III
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- Book:
- Molecular Oncology
- Published online:
- 05 February 2015
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- 19 December 2013, pp 434-441
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Summary
Introduction
Consistent with the somatic mutation theory of cancer, hereditary diseases that interfere with the functional integrity of the nuclear genome can generate an increased mutational burden in cells and hence an increased predisposition to neoplastic transformation. Multiple hereditary diseases associated with genomic instability are associated with cancer predisposition. However, some of these are extremely rare and documentation of such cancer predisposition is tenuous. This review considers some of the diseases listed in Table 36.1, all of which interfere with normal biological responses to DNA damage, or arrested or stalled DNA replication. Mouse models have been rendered for many of these human diseases, but are not discussed here in any detail. A comprehensive listing of mutant mouse strains defective in biological responses to DNA damage has been published (1).
Xeroderma pigmentosum (XP)
The skin cancer-prone hereditary disease xeroderma pigmentosum (XP) is the first human hereditary disease in which a definitive causal relationship was demonstrated between exposure to DNA-damaging agents and cancer predisposition. As recounted in detail elsewhere (2,3), this key observation was first documented by James Cleaver in the late 1960s, who showed that cultured cells from XP individuals are defective in the process of nucleotide excision repair (NER) and are consequently abnormally sensitive to killing following exposure to ultraviolet (UV) radiation (3).
Contributors
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- By Rose Teteki Abbey, K. C. Abraham, David Tuesday Adamo, LeRoy H. Aden, Efrain Agosto, Victor Aguilan, Gillian T. W. Ahlgren, Charanjit Kaur AjitSingh, Dorothy B E A Akoto, Giuseppe Alberigo, Daniel E. Albrecht, Ruth Albrecht, Daniel O. Aleshire, Urs Altermatt, Anand Amaladass, Michael Amaladoss, James N. Amanze, Lesley G. Anderson, Thomas C. Anderson, Victor Anderson, Hope S. Antone, María Pilar Aquino, Paula Arai, Victorio Araya Guillén, S. Wesley Ariarajah, Ellen T. Armour, Brett Gregory Armstrong, Atsuhiro Asano, Naim Stifan Ateek, Mahmoud Ayoub, John Alembillah Azumah, Mercedes L. García Bachmann, Irena Backus, J. Wayne Baker, Mieke Bal, Lewis V. Baldwin, William Barbieri, António Barbosa da Silva, David Basinger, Bolaji Olukemi Bateye, Oswald Bayer, Daniel H. Bays, Rosalie Beck, Nancy Elizabeth Bedford, Guy-Thomas Bedouelle, Chorbishop Seely Beggiani, Wolfgang Behringer, Christopher M. Bellitto, Byard Bennett, Harold V. Bennett, Teresa Berger, Miguel A. Bernad, Henley Bernard, Alan E. Bernstein, Jon L. Berquist, Johannes Beutler, Ana María Bidegain, Matthew P. Binkewicz, Jennifer Bird, Joseph Blenkinsopp, Dmytro Bondarenko, Paulo Bonfatti, Riet en Pim Bons-Storm, Jessica A. Boon, Marcus J. Borg, Mark Bosco, Peter C. Bouteneff, François Bovon, William D. Bowman, Paul S. Boyer, David Brakke, Richard E. Brantley, Marcus Braybrooke, Ian Breward, Ênio José da Costa Brito, Jewel Spears Brooker, Johannes Brosseder, Nicholas Canfield Read Brown, Robert F. Brown, Pamela K. Brubaker, Walter Brueggemann, Bishop Colin O. Buchanan, Stanley M. Burgess, Amy Nelson Burnett, J. Patout Burns, David B. Burrell, David Buttrick, James P. Byrd, Lavinia Byrne, Gerado Caetano, Marcos Caldas, Alkiviadis Calivas, William J. Callahan, Salvatore Calomino, Euan K. Cameron, William S. Campbell, Marcelo Ayres Camurça, Daniel F. Caner, Paul E. Capetz, Carlos F. Cardoza-Orlandi, Patrick W. Carey, Barbara Carvill, Hal Cauthron, Subhadra Mitra Channa, Mark D. 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Yee, Viktor Yelensky, Yeo Khiok-Khng, Gustav K. K. Yeung, Angela Yiu, Amos Yong, Yong Ting Jin, You Bin, Youhanna Nessim Youssef, Eliana Yunes, Robert Michael Zaller, Valarie H. Ziegler, Barbara Brown Zikmund, Joyce Ann Zimmerman, Aurora Zlotnik, Zhuo Xinping
- Edited by Daniel Patte, Vanderbilt University, Tennessee
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- Book:
- The Cambridge Dictionary of Christianity
- Published online:
- 05 August 2012
- Print publication:
- 20 September 2010, pp xi-xliv
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10 - Fault populations
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- By Richard A. Schultz, Geomechanics – Rock Fracture Group, Department of Geological Sciences and Engineering, University of Nevada, Reno, Roger Soliva, Université Montpellier II, Département des Sciences de la Terre et de l'Environnement, France, Chris H. Okubo, U.S. Geological Survey, Flagstaff, Daniel Mège, Laboratoire de Planetologie et Geodynamique, UFR des Sciences et Techniques Université de Nantes, France
- Edited by Thomas R. Watters, Smithsonian Institution, Washington DC, Richard A. Schultz, University of Nevada, Reno
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- Book:
- Planetary Tectonics
- Published online:
- 30 March 2010
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- 17 December 2009, pp 457-510
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Summary
Summary
Faults have been identified beyond the Earth on many other planets, satellites, and asteroids in the solar system, with normal and thrust faults being most common. Faults on these bodies exhibit the same attributes of fault geometry, displacement–length scaling, interaction and linkage, topography, and strain accommodation as terrestrial faults, indicating common processes despite differences in environmental conditions, such as planetary gravity, surface temperature, and tectonic driving mechanism. Widespread extensional strain on planetary bodies is manifested as arrays and populations of normal faults and grabens having soft-linked and hard-linked segments and relay structures that are virtually indistinguishable from their Earth-based counterparts. Strike-slip faults on Mars and Europa exhibit classic and diagnostic elements such as rhombohedral push-up ranges in their echelon stepovers and contractional and extensional structures located in their near-tip quadrants. Planetary thrust faults associated with regional contractional strains occur as surface-breaking structures, known as lobate scarps, or as blind faults beneath an anticlinal fold at the surface, known as a wrinkle ridge. Analysis of faults and fault populations can reveal insight into the evolution of planetary surfaces that cannot be gained from other techniques. For example, measurements of fault-plane dip angles provide information on the frictional strength of the faulted lithosphere. The depth of faulting, and potentially, paleogeothermal gradients and seismic moments, can be obtained by analysis of the topographic changes associated with faulting.
An Experimental Approach to Facilitation of Psychotherapy by Psychotomimetic Drugs
- Leo E. Hollister, Roger O. Degan, S. Donald Schultz
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- Journal:
- Journal of Mental Science / Volume 108 / Issue 452 / January 1962
- Published online by Cambridge University Press:
- 08 February 2018, pp. 99-100
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- January 1962
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Psychotomimetic drugs have been used increasingly in the past decade for facilitating psychotherapy, most experience being with lysergic acid diethylamide (LSD-25) (Sandison, 3; Savage, 4; Abramson, 1; Cohen, 2). Few attempts have been made to study experimentally their effects on therapeutic interviews, largely because of technical difficulties.