Telomere biology disorders
Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and sen...
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sg-ntu-dr.10356-1519452023-03-05T16:46:26Z Telomere biology disorders Kam, Michelle L. W. Nguyen, Trang T. T. Ngeow, Joanne Yuen Yie Lee Kong Chian School of Medicine (LKCMedicine) National Cancer Centre Science::Medicine Anaemia Disease Genetics Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognised and underdiagnosed. There is no gold standard for measuring telomere length and not all TBD-related mutations have been identified. There is no specific cure and the only treatment is organ transplantation, which has poor outcomes. This review summarises the current literature and discusses gaps in understanding and areas of need in managing TBD. Published version 2021-10-21T07:58:45Z 2021-10-21T07:58:45Z 2021 Journal Article Kam, M. L. W., Nguyen, T. T. T. & Ngeow, J. Y. Y. (2021). Telomere biology disorders. Npj Genomic Medicine, 6, 36-. https://dx.doi.org/10.1038/s41525-021-00198-5 2056-7944 https://hdl.handle.net/10356/151945 10.1038/s41525-021-00198-5 34050178 2-s2.0-85106990889 6 36 en npj Genomic Medicine © 2021 The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. application/pdf |
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Science::Medicine Anaemia Disease Genetics Kam, Michelle L. W. Nguyen, Trang T. T. Ngeow, Joanne Yuen Yie Telomere biology disorders |
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Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognised and underdiagnosed. There is no gold standard for measuring telomere length and not all TBD-related mutations have been identified. There is no specific cure and the only treatment is organ transplantation, which has poor outcomes. This review summarises the current literature and discusses gaps in understanding and areas of need in managing TBD. |
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Lee Kong Chian School of Medicine (LKCMedicine) |
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Lee Kong Chian School of Medicine (LKCMedicine) Kam, Michelle L. W. Nguyen, Trang T. T. Ngeow, Joanne Yuen Yie |
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Article |
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Kam, Michelle L. W. Nguyen, Trang T. T. Ngeow, Joanne Yuen Yie |
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Kam, Michelle L. W. |
title |
Telomere biology disorders |
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Telomere biology disorders |
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Telomere biology disorders |
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Telomere biology disorders |
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Telomere biology disorders |
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telomere biology disorders |
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2021 |
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https://hdl.handle.net/10356/151945 |
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