An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

Phosphatidylinositol 5-Phosphatase Oculocerebrorenal Syndrome of Lowe Protein (OCRL) Controls Actin Dynamics during Early Steps ofListeria monocytogenesInfection

(2012) Andreas Kühbacher et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Growth Hormone Improves Growth Rate and Preserves Renal Function in Dent Disease

(2011) S. Sheffer-Babila et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis

(2011) Daphné Dambournet et al.   NATURE CELL BIOLOGY

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

(2011) Adam G. Grieve et al.   PLoS One

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

(2010) Radovan Bogdanović et al.   PEDIATRIC NEPHROLOGY

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

(2009) Antony E. Shrimpton et al.   NEPHRON PHYSIOLOGY

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

(2009) Enrica Tosetto et al.   PEDIATRIC NEPHROLOGY

Vitamin A responsive night blindness in Dent’s disease

(2009) Sidharth Kumar Sethi et al.   PEDIATRIC NEPHROLOGY

Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

(2009) Yaacov Frishberg et al.   PEDIATRIC NEPHROLOGY