Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy

Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment epithelial (RPE) cells. It has been hypothesized that ARB represents the human null phenotype for BEST1 and that this occurs due to no...

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Vydáno v:Sci Rep
Hlavní autoři: Marmorstein, Alan D., Johnson, Adiv A., Bachman, Lori A., Andrews-Pfannkoch, Cynthia, Knudsen, Travis, Gilles, Benjamin J., Hill, Matthew, Gandhi, Jarel K., Marmorstein, Lihua Y., Pulido, Jose S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852082/
https://ncbi.nlm.nih.gov/pubmed/29540715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-21651-z
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