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Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x
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- Publication type:
- Article
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Lowe syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 16, doi. 10.1186/1750-1172-1-16
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- Publication type:
- Article
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
- Published in:
- EMBO Journal, 2006, v. 25, n. 16, p. 3750, doi. 10.1038/sj.emboj.7601274
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- Publication type:
- Article
Lowe syndrome with anal atresia: A possible variant of OCRL?
- Published in:
- Pediatrics International, 2003, v. 45, n. 2, p. 201, doi. 10.1046/j.1442-200X.2003.01697.x
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- Publication type:
- Article
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6
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- Publication type:
- Article
Oculo-Cerebro-Renal Syndrome.
- Published in:
- Clinical Pediatrics, 1972, v. 11, n. 2, p. 119, doi. 10.1177/000992287201100223
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- Publication type:
- Article
Infantile Glaucoma. . .and Discoid Cataracts.
- Published in:
- 2014
- By:
- Publication type:
- Test/Instrument
Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.
- Published in:
- Nature Biotechnology, 2003, v. 21, n. 7, p. 813, doi. 10.1038/nbt837
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- Publication type:
- Article
dOCRL maintains immune cell quiescence by regulating endosomal traffic.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1007052
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- Publication type:
- Article
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
- Published in:
- Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 789, doi. 10.1038/nsmb.2071
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- Publication type:
- Article
Lowe syndrome: literature review and case report.
- Published in:
- Journal of Orthodontics, 2008, v. 35, n. 3, p. 156, doi. 10.1179/146531207225022599
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- Publication type:
- Article
CYTOSKELETAL REGULATION: RICH IN LIPIDS.
- Published in:
- Nature Reviews Molecular Cell Biology, 2004, v. 5, n. 8, p. 658, doi. 10.1038/nrm1434
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- Publication type:
- Article
Oculo-auriculo-vertebral spectrum.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105
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- Publication type:
- Article
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066727
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- Publication type:
- Article
Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0024044
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- Publication type:
- Article
Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.
- Published in:
- Human Genetics, 2011, v. 129, n. 5, p. 513, doi. 10.1007/s00439-010-0944-y
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- Publication type:
- Article
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2377, doi. 10.1007/s00467-024-06356-y
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- Publication type:
- Article
An uncommon cause of hypophosphatemic rickets: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2613, doi. 10.1007/s00467-023-05952-8
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- Publication type:
- Article
Correction to: Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Combined PI3K Inhibitor and Eribulin Enhances Anti-Tumor Activity in Preclinical Models of Paclitaxel-Resistant, PIK3CA-Mutated Endometrial Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 19, p. 4887, doi. 10.3390/cancers15194887
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- Publication type:
- Article
The Ginsenoside Compound K Suppresses Stem-Cell-like Properties and Colorectal Cancer Metastasis by Targeting Hypoxia-Driven Nur77-Akt Feed-Forward Signaling.
- Published in:
- Cancers, 2023, v. 15, n. 1, p. 24, doi. 10.3390/cancers15010024
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- Publication type:
- Article
Clinical utility gene card for: Lowe syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.177
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- Publication type:
- Article
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 687, doi. 10.1038/ejhg.2012.225
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- Publication type:
- Article
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
- Published in:
- EMBO Journal, 2009, v. 28, n. 13, p. 1831, doi. 10.1038/emboj.2009.155
- By:
- Publication type:
- Article
Effects of rhodiola crenulata on mice hearts under severe sleep apnea.
- Published in:
- BMC Complementary & Alternative Medicine, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12906-015-0698-0
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- Publication type:
- Article
Gambogenic acid alters chemosensitivity of breast cancer cells to Adriamycin.
- Published in:
- BMC Complementary & Alternative Medicine, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12906-015-0710-8
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- Publication type:
- Article
A Boy with Dent-2 Disease.
- Published in:
- Collegium Antropologicum, 2011, v. 35, n. 3, p. 925
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- Publication type:
- Article
Phospholipase C-related catalytically inactive protein regulates cytokinesis by protecting phosphatidylinositol 4,5-bisphosphate from metabolism in the cleavage furrow.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49156-3
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- Publication type:
- Article
Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.
- Published in:
- Nature Cell Biology, 2011, v. 13, n. 8, p. 981, doi. 10.1038/ncb2279
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- Publication type:
- Article
Corneal Keloid in Lowe Syndrome.
- Published in:
- 2005
- By:
- Publication type:
- Case Study
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 3, p. 331
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- Publication type:
- Article
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 1, p. 82
- By:
- Publication type:
- Article
Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1166, doi. 10.3390/children10071166
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- Publication type:
- Article
Structure and Function of the Lowe Syndrome Protein OCRL1.
- Published in:
- Traffic, 2005, v. 6, n. 9, p. 711, doi. 10.1111/j.1600-0854.2005.00311.x
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- Publication type:
- Article
Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome.
- Published in:
- Clinical Kidney Journal, 2015, v. 8, n. 4, p. 459, doi. 10.1093/ckj/sfv048
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- Publication type:
- Article
Eruptive Vellus Hair Cysts in a Patient with Lowe Syndrome.
- Published in:
- Pediatric Dermatology, 2004, v. 21, n. 1, p. 54, doi. 10.1111/j.0736-8046.2004.21112.x
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- Publication type:
- Article
Poor Tc-99m dimercaptosuccinic acid uptake, re-evaluation with Tc-99m MAG3 scintigraphy in Lowe syndrome.
- Published in:
- Indian Journal of Nuclear Medicine, 2011, v. 26, n. 4, p. 185, doi. 10.4103/0972-3919.106701
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- Publication type:
- Article
A role for OCRL in glomerular function and disease.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 4, p. 641, doi. 10.1007/s00467-019-04317-4
- By:
- Publication type:
- Article
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 4, p. 621, doi. 10.1007/s00467-016-3535-x
- By:
- Publication type:
- Article
The oculocerebrorenal syndrome of Lowe: an update.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 12, p. 2201, doi. 10.1007/s00467-016-3343-3
- By:
- Publication type:
- Article
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 6, p. 931, doi. 10.1007/s00467-014-3013-2
- By:
- Publication type:
- Article
The long-term complications of the inherited tubulopathies: an adult perspective.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 3, p. 385, doi. 10.1007/s00467-014-2779-6
- By:
- Publication type:
- Article
Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 10, p. 1967, doi. 10.1007/s00467-009-1228-4
- By:
- Publication type:
- Article
Renal manifestations of Dent disease and Lowe syndrome.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 2, p. 243, doi. 10.1007/s00467-007-0686-9
- By:
- Publication type:
- Article
OCRL1 mutations in patients with Dent disease phenotype in Japan.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 7, p. 975, doi. 10.1007/s00467-007-0454-x
- By:
- Publication type:
- Article
Simultaneous Bilateral Cataract Surgery in Premature Babies With and Without Retinopathy of Prematurity.
- Published in:
- U.S. Ophthalmic Review, 2013, v. 6, n. 2, p. 94
- By:
- Publication type:
- Article
Anesthetic challenges in a child with Lowe's and Fanconi syndrome.
- Published in:
- Indian Journal of Anaesthesia, 2018, v. 62, n. 11, p. 900, doi. 10.4103/ija.IJA_294_18
- By:
- Publication type:
- Article