Associated Papers
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Du R et al.
Pediatric Nephrology (berlin, Germany), 2024
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Lee JJ et al.
Biomolecules, 2023
Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
Zhang Y et al.
Bmc Medical Genomics, 2021
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Ramadesikan S et al.
Human Molecular Genetics, 2021
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
29300302 (PubMed )
Supplement: genes-09-00015-s001.pdf
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E et al.
Scientific Reports, 2017
Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes.
Cauvin C et al.
Current Biology : Cb, 2016
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.
Dambournet D et al.
Nature Cell Biology, 2011
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
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