期刊
CLINICA CHIMICA ACTA
卷 472, 期 -, 页码 41-45出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cca.2017.07.010
关键词
Cataract; Markers; Gene mutation; Mechanism
资金
- National Natural Science Foundation of the Peoples Republic of China [81470613, 81100653, 81670835, 81270989]
- International Science and Technology Cooperation Foundation of Shanghai [14430721100]
- National Health and Family Planning Commission of the People's Republic of China [201302015]
Cataract is caused by nutritional, metabolic, environmental, and genetic factors, and is a significant cause of blindness and visual impairment. In recent years, extensive research into the human genome has revealed that numerous genetic mutations are associated with cataract. These mutations affect a variety of genes, including those encoding crystallin, membrane proteins, cytoskeletal proteins, transcription factors, and metabolism-related proteins. Elucidation of these mutations and the genetic and molecular mechanisms has helped clarify the etiology of cataract and may facilitate its early diagnosis and treatment. This review summarizes recent advances in our knowledge and potential clinical of genetic markers of cataract.
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