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

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

(2010) Charles Coutton et al.   CLINICAL BIOCHEMISTRY

Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome

(2010) Takeo Kubota et al.   CLINICAL GENETICS

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1

(2010) Laura E. Swan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism

(2009) Yuxin Mao et al.   EMBO JOURNAL

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

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

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

(2008) Heather J. McCrea et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations in OCRL1 gene in Indian children with Lowe syndrome

(2008) Sidharth Kumar Sethi et al.   Clinical and Experimental Nephrology

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

(2008) D. Bockenhauer et al.   Clinical Journal of the American Society of Nephrology

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome

(2003) J Peverall et al.   CLINICAL GENETICS