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Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion

Aquaporin 0 (AQP0) performs dual functions in the lens fiber cells, as a water pore and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in both humans and mice. An arginine to cysteine missense mutation at amino acid 33 (R33C) produced congenital autosomal dominant...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kumari, Sindhu S., Gandhi, Jason, Mustehsan, Mohammed H., Eren, Semih, Varadaraj, Kulandaiappan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2013
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3864651/
https://ncbi.nlm.nih.gov/pubmed/24120416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2013.09.019
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