• "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement"
• A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy
• A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test
• A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient
• A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome
• A human stem cell resource to decipher the biochemical and cellular basis of neurodevelopmental defects in Lowe syndrome
• A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease
• A role for OCRL in glomerular function and disease
• Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome
• Anesthetic challenges in a child with Lowe's and Fanconi syndrome
• Angiosarcoma of an Arteriovenous Fistula for Hemodialysis in a Kidney Transplant Recipient Affected by Lowe's Syndrome
• Assessment of endocytic traffic and Ocrl function in the developing zebrafish neuroepithelium
• Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
• Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts
• Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
• Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome
• Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl
• Cerebro- and renoprotective activities through platelet-derived biomaterials against cerebrorenal syndrome in rat model
• Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene
• Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome
• Clinical Approach to Proximal Renal Tubular Acidosis in Children
• Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase
• Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature
• Corneal Keloid in Lowe Syndrome
• Dental needs and conditions of individuals with Lowe syndrome: An observational study
• dOCRL maintains immune cell quiescence by regulating endosomal traffic
• Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model
• Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
• Epilepsy and cranial hemangioma in Lowe syndrome
• Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)
• Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome
• Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
• Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes
• Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes
• Genotype and phenotype studies of Lowe syndrome in three families in Taiwan
• Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: <em>OCRL</em> Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
• Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
• Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with <em>OCRL</em> Mutations
• Guanine nucleotide exchange factors activate Rab8a for Toll-like receptor signalling
• Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes
• Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review
• Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<em>OCRL</em>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract
• Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract
• Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome
• Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome
• Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome
• Inherited Fanconi syndrome
• Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Lowe Syndrome
• Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations
• IPIP27 Coordinates PtdIns(4,5)P₂ Homeostasis for Successful Cytokinesis
• IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule
• Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex
• Loss of OCRL increases ciliary PI(4,5)P(2) in Lowe oculocerebrorenal syndrome
• Loss of OCRL increases ciliary PI(4,5)P₂ in Lowe oculocerebrorenal syndrome
• Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma
• Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene
• Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction
• Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature
• Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins
• Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny
• Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in <em>Dictyostelium discoideum</em>
• Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in Dictyostelium discoideum
• Lysosome positioning and mTOR activity in Lowe syndrome
• Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism
• Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells
• Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review
• Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
• Novel mutation in <em>OCRL</em> leading to a severe form of Lowe syndrome
• Novel mutation in OCRL leading to a severe form of Lowe syndrome
• Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts
• Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review
• OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease
• OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring
• OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses
• Oculocerebrorenal Syndrome
• Oculocerebrorenal Syndrome
• Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane
• Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P₂ hydrolysis in the plasma membrane
• Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading
• Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management
• Onset mechanism of a female patient with Dent disease 2
• Ophthalmological finding in a patient with lowe syndrome
• PALLD Regulates Phagocytosis by Enabling Timely Actin Polymerization and Depolymerization
• Pediatric Cataract
• Phosphoinositides in autophagy: current roles and future insights
• Phospholipase C-related catalytically inactive protein regulates cytokinesis by protecting phosphatidylinositol 4,5-bisphosphate from metabolism in the cleavage furrow
• PTEN reduces endosomal PtdIns(4,5)P₂ in a phosphatase-independent manner via a PLC pathway
• Quantitative Imaging Flow Cytometry of Legionella-Infected Dictyostelium Amoebae Reveals the Impact of Retrograde Trafficking on Pathogen Vacuole Composition
• Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome
• RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders
• SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase
• Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader-Willi syndrome
• The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2
• The enemy of my enemy: PTEN and PLCXD collude to fight endosomal PtdIns(4,5)P₂
• The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease
• The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease
• The structure of Legionella effector protein LpnE provides insights into its interaction with Oculocerebrorenal syndrome of Lowe (OCRL) protein
• Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations
• Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome
• Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome