短端粒和长端粒综合征：分子医学的配对范例
The short and long telomere syndromes: paired paradigms for molecular medicine.
作者信息
Stanley Susan E, Armanios Mary
机构信息
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States.
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States.
出版信息
Curr Opin Genet Dev. 2015 Aug;33:1-9. doi: 10.1016/j.gde.2015.06.004. Epub 2015 Jul 29.
Abstract
Recent advances have defined a role for abnormally short telomeres in a broad spectrum of genetic disorders. They include rare conditions such as dyskeratosis congenita as well pulmonary fibrosis and emphysema. Now, there is new evidence that some familial cancers, such as melanoma, are caused by mutations that lengthen telomeres. Here, we examine the significance of these short and long telomere length extremes for understanding the molecular basis of age-related disease and cancer.
摘要
最近的研究进展已明确了异常短的端粒在广泛的遗传疾病中的作用。这些疾病包括诸如先天性角化不良等罕见病症以及肺纤维化和肺气肿。现在，有新证据表明，一些家族性癌症，如黑色素瘤，是由使端粒延长的突变引起的。在此，我们探讨这些端粒长度极短和极长情况对于理解与年龄相关疾病和癌症的分子基础的意义。
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