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Year | Number of Results |
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2018 | 1 |
2020 | 1 |
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Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Biomolecules. 2023 Mar 29;13(4):615. doi: 10.3390/biom13040615.
Biomolecules. 2023.
PMID: 37189363
Free PMC article.
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Ramadesikan S, Skiba L, Lee J, Madhivanan K, Sarkar D, De La Fuente A, Hanna CB, Terashi G, Hazbun T, Kihara D, Aguilar RC.
Ramadesikan S, et al.
Hum Mol Genet. 2021 Apr 26;30(3-4):198-212. doi: 10.1093/hmg/ddab025.
Hum Mol Genet. 2021.
PMID: 33517444
Free PMC article.
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Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.
Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC.
Madhivanan K, et al.
Hum Mol Genet. 2020 Jun 27;29(10):1700-1715. doi: 10.1093/hmg/ddaa086.
Hum Mol Genet. 2020.
PMID: 32391547
Free PMC article.
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Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.
Hsieh WC, Ramadesikan S, Fekete D, Aguilar RC.
Hsieh WC, et al.
PLoS One. 2018 Feb 14;13(2):e0192635. doi: 10.1371/journal.pone.0192635. eCollection 2018.
PLoS One. 2018.
PMID: 29444177
Free PMC article.
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