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TranscriptomicsFe ions and X-ray radiation exposure of Est2-immortalised human coronary artery endothelial cells - 1 day and 7 days post-irradiation
In recent years there is a growing epidemiological indication of excess risk of cardiovascular disease at low doses of ionizing radiation without a clear-cut threshold. It is proposed that damage to the vascular endothelium is critical in radiation-related cardiovascular diseases. In order to identi...
ORGANISM(S): Homo sapiens 
2017-10-02 | E-MTAB-5754 | biostudies-arrayexpress
TranscriptomicsA 3D renal proximal tubule on chip model phenocopies Lowe syndrome and Dent II disease tubulopathy.
Lowe syndrome and Dent II disease are X-linked monogenetic diseases characterised by a renal reabsorption defect in the proximal tubules and caused by mutations in the OCRL gene, which codes for an inositol-5-phosphatase. The life expectancy of patients suffering from Lowe syndrome is largely reduce...
ORGANISM(S): Homo sapiens 
2021-05-21 | GSE171848 | GEO
UnknownLoss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome.
Not available
S-EPMC5665444 | biostudies-literature
UnknownOculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
Not available
S-EPMC8177091 | biostudies-literature
GenomicsA 3D renal proximal tubule on chip model phenocopies Lowe syndrome and Dent II disease tubulopathy.
A 3D renal proximal tubule on chip model phenocopies Lowe syndrome and Dent II disease tubulopathy.
PRJNA721193 | ENA
UnknownA structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
Not available
S-EPMC3102282 | biostudies-literature
UnknownMembrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
Not available
S-EPMC1553191 | biostudies-literature
UnknownKidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.
Not available
S-EPMC5812626 | biostudies-literature
UnknownThe deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
Not available
S-EPMC378584 | biostudies-literature
UnknownBase editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.
Not available
S-EPMC12099292 | biostudies-literature
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