Lowe Syndrome Latest Advances

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Journal: Journal of clinical medicine

Published: May 25, 2026

Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets.

Journal: Frontiers in cell and developmental biology

Published: May 20, 2026

Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.

Journal: Pediatric nephrology (Berlin, Germany)

Published: April 22, 2026

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Journal: Pediatric blood & cancer

Published: March 04, 2026

Sulfate handling in proximal renal tubular defects: an exploratory study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 18, 2026

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Journal: Molecular biology reports

Published: January 13, 2026

Clinical variation in Lowe syndrome: what and how?

Journal: Frontiers in cell and developmental biology

Published: October 08, 2025

Mitochondrial structure and function in OCRL depleted cells.

Journal: Frontiers in cell and developmental biology

Published: August 05, 2025

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Journal: Frontiers in cell and developmental biology

Published: May 28, 2025

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

Journal: EMBO molecular medicine

Published: May 16, 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

Lowe Syndrome Latest Advances

Find the Latest Research About Lowe Syndrome

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets.

Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets.

Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.

Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Sulfate handling in proximal renal tubular defects: an exploratory study.

Sulfate handling in proximal renal tubular defects: an exploratory study.

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Clinical variation in Lowe syndrome: what and how?

Clinical variation in Lowe syndrome: what and how?

Mitochondrial structure and function in OCRL depleted cells.

Mitochondrial structure and function in OCRL depleted cells.

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.