Functional polymorphisms in Nrf2: implications for human disease
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- 作者：Hye-Youn Cho ; Jacqui Marzec ; Steven R. Kleeberger ; kleeber1@niehs.nih.gov" class="auth_mail" title="E-mail the corresponding author
- 关键词：AAO ; age at onset ; ALI ; acute lung injury ; AMD ; age-related macular degeneration ; ARE ; antioxidant response element ; BPD ; bronchopulmonary dysplasia ; 尾-TrCP ; 尾-transducin repeats-containing proteins ; CCA ; cholangiocarcinoma ; Cns ; non-synonymous coding ; COPD ; chronic obstructive pulmonary disease ; COSMIC ; catalogue of somatic mutations in cancer ; CREB ; cAMP response element binding protein ; CUL3 ; cullin 3 ; CVD ; cardiovascular disease ; ESCC ; esophageal squamous cell carcinoma ; FBF ; forearm blood f
- 刊名：Free Radical Biology and Medicine
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：88
- 期：part_PB
- 页码：362-372
- 全文大小：1622 K
文摘
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Genetic variations in Nrf2 have important implications for human disease susceptibility.
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Mutations and haplotypes in human Nrf2 have been identified and characterized.
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Functional Nrf2 polymorphisms are associated with risk of many human diseases.
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Somatic Nrf2 mutations have also been identified, and some are oncogenic.
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Understanding variation in Nrf2 should lead to novel disease intervention strategies.
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