Cargando…
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...
Autores principales: | 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. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852082/ https://www.ncbi.nlm.nih.gov/pubmed/29540715 http://dx.doi.org/10.1038/s41598-018-21651-z |
Ejemplares similares
-
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy
por: Witsberger, Emily, et al.
Publicado: (2019) -
Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
por: Yamada, Rika, et al.
Publicado: (2021) -
Autosomal recessive bestrophinopathy with macular hole
por: Hirawat, Raj Shri, et al.
Publicado: (2020) -
Human Fibrinogen for Maintenance and Differentiation of Induced Pluripotent Stem Cells in Two Dimensions and Three Dimensions
por: Gandhi, Jarel K., et al.
Publicado: (2019) -
Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy
por: Lee, Ji Hwan, et al.
Publicado: (2020)