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The genetic basis of disease
Abstract
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.
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“But the majority of the diseases lack effective treatment strategies.19”
From Mechanism and Applications of CRISPR/Cas-9-Mediated Genome Editing (2021) · cites this paper as [19]
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Lombardi, L. M., Baker, S. A., & Zoghbi, H. Y. (2015) · Journal of Clinical Investigation · doi:10.1172/jci78167 · Cited by 221
Huntington disease: A single-gene degenerative disorder of the striatum
Nopoulos, P. C. (2016) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2016.18.1/pnopoulos · Cited by 161
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Cited by
Sorted by citations
Mechanism and Applications of CRISPR/Cas-9-Mediated Genome Editing
Mengstie, M. A., & Wondimu, B. Z. (2021) · Biologics: Targets and Therapy · doi:10.2147/btt.s326422 · Cited by 478
Hao, X.-D., Gao, H., Xu, W.-H., Shan, C., Liu, Y., Zhou, Z.-X., Wang, K., & Li, P.-F. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2021.770138 · Cited by 20
Metadata
- Authors
- Jackson, M., Marks, L., May, G. H. W., & Wilson, J. B.
- Affiliations
- School of Medicine, Dentistry and Nursing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.
- School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.
- ORCID
- May, Gerhard H.W.
- Venue
- Essays in Biochemistry
- Publisher
- Portland Press Ltd.
- Published
- 2018-12-03
- Volume
- 62
- Issue
- 5
- Pages
- 643-723
- ISSN
- 0071-1365
- 1744-1358
- PMC
- PMC6279436
- Cited by
- 295
- References
- 6
- Language
- en
- Update notices
- correction (2020-07-28)
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