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Last Updated: 10/31/2025
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Found 490 publications
Modelling Lowe syndrome and Dent-2 disease using zebrafish.
Journal: Frontiers in cell and developmental biology
Published: May 28, 2025
The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.
Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids
Published: May 02, 2025
Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.
Journal: Frontiers in cell and developmental biology
Published: April 11, 2025
Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.
Journal: bioRxiv : the preprint server for biology
Published: November 18, 2024
Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.
Journal: Kidney international reports
Published: September 08, 2024
OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
Journal: Biomolecules
Published: May 29, 2024
A female patient with Dent disease due to skewed X-chromosome inactivation.
Journal: Clinical kidney journal
Published: February 12, 2024
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.
Journal: Prenatal diagnosis
Published: February 12, 2024
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.
Journal: Human molecular genetics
Published: December 18, 2023
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Journal: Pediatric nephrology (Berlin, Germany)
Published: June 23, 2023
Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.
Journal: Children (Basel, Switzerland)
Published: June 12, 2023
Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.
Journal: Ophthalmology. Glaucoma
Published: April 18, 2023
Last Updated: 10/31/2025