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cataracts
Thursday 16 October 2003
Definition: Opacity of the entire lens or its parts.
Types (Examples)
autosomal dominant cataract
Classification of mutated genes
transcription factor mutations
miscellaneous
- MIP mutations
gap junction proteins
- GJA1
- GJA3
- GJA8
structural proteins
- CRYBB1 in autosomal dominant cataract
- CRYAA
- CRYAB
- CRYBA1
- CRYBB1
- CRYBB2
- CRYGA-F
chromatin-modifying protein/charged multivesicular body protein (CHMPs)
- CHMP4B (autosomal dominant cataract)
References
Biswas S, Harris F, Dennison S, Singh J, Phoenix DA. Calpains: targets of cataract prevention? Trends Mol Med. 2004 Feb;10(2):78-84. PMID: 15102361
Francis PJ, Berry V, Moore AT, Bhattacharya S. Lens biology: development and human cataractogenesis. Trends Genet. 1999 May;15(5):191-6. PMID: 10322486