Human pathology

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cataracts

cataract

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

- structural proteins

  • mutations in the LIM2 gene (11917274) in dominant congenital posterior polar cataract

- chromatin-modifying protein/charged multivesicular body protein (CHMPs)

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

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