Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the …
H Liu, J Barnes, E Pedrosa, NS Herman… - Journal of …, 2020 - Springer
Background Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked
gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role
in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is
characterized by congenital cataracts, intellectual and developmental disability, and renal
proximal tubular dysfunction. Patients are also at high risk for developing glaucoma and
seizures. We recently developed induced pluripotent stem cell (iPSC) lines from three …
gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role
in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is
characterized by congenital cataracts, intellectual and developmental disability, and renal
proximal tubular dysfunction. Patients are also at high risk for developing glaucoma and
seizures. We recently developed induced pluripotent stem cell (iPSC) lines from three …
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the …
SD Nikhil, SP JHSaha… - JOURNAL OF …, 2020 - verimerkezi.beun.edu.tr
Background Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked
gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role
in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is
characterized by congenital cataracts, intellectual and developmental disability, and renal
proximal tubular dysfunction. Patients are also at high risk for developing glaucoma and
seizures. We recently developed induced pluripotent stem cell (iPSC) lines from three …
gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role
in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is
characterized by congenital cataracts, intellectual and developmental disability, and renal
proximal tubular dysfunction. Patients are also at high risk for developing glaucoma and
seizures. We recently developed induced pluripotent stem cell (iPSC) lines from three …
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