The oculocerebrorenal syndrome of Lowe: an update

Phosphoinositides in endocytosis

(2015) York Posor et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Rituximab in Children with Steroid-Dependent Nephrotic Syndrome: A Multicenter, Open-Label, Noninferiority, Randomized Controlled Trial

(2015) P. Ravani et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Down-Regulation of Rac GTPase-Activating Protein OCRL1 Causes Aberrant Activation of Rac1 in Osteoarthritis Development

(2015) Shouan Zhu et al.   Arthritis & Rheumatology

Generation of a New Cystatin C-Based Estimating Equation for Glomerular Filtration Rate by Use of 7 Assays Standardized to the International Calibrator

(2014) A. Grubb et al.   CLINICAL CHEMISTRY

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

(2014) R. Montjean et al.   HUMAN MOLECULAR GENETICS

Muscle involvement in Dent disease 2

(2014) Eujin Park et al.   PEDIATRIC NEPHROLOGY

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

(2014) Florian Recker et al.   PEDIATRIC NEPHROLOGY

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

(2014) Zenobia B. Mehta et al.   TRAFFIC

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

(2012) Guojin Wu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C

(2012) George J. Schwartz et al.   KIDNEY INTERNATIONAL

Phosphatidylinositol 4-Kinases and PI4P Metabolism in the Nervous System: Roles in Psychiatric and Neurological Diseases

(2012) Emma L. Clayton et al.   MOLECULAR NEUROBIOLOGY

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL

(2012) Michelle Pirruccello et al.   TRENDS IN BIOCHEMICAL SCIENCES

Orthodontic treatment of a patient with Lowe syndrome

(2011) Antônio Carlos de Oliveira Ruellas et al.   AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS

OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin

(2011) Mariella Vicinanza et al.   EMBO JOURNAL

Clinical and laboratory features of Macedonian children with OCRL mutations

(2011) Velibor Tasic et al.   PEDIATRIC NEPHROLOGY

Multiple Epidermal Cysts in Lowe Syndrome

(2010) Jong Hoon Won et al.   Annals of Dermatology

short report: Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

(2010) Dominique Lasne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Antenatal diagnosis of Lowe syndrome

(2010) Sidharth Kumar Sethi et al.   Clinical and Experimental Nephrology

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

Prenatal detection of congenital cataract in a fetus with Lowe syndrome

(2010) G. Daskalakis et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

(2010) S. P. Bothwell et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

(2010) Susan P. Bothwell et al.   MAMMALIAN GENOME

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

(2009) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

Differential Clathrin Binding and Subcellular Localization of OCRL1 Splice Isoforms

(2009) Rawshan Choudhury et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

New Equations to Estimate GFR in Children with CKD

(2009) G. J. Schwartz et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome

(2009) Jia-Woei Hou   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

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

(2009) Enrica Tosetto et al.   PEDIATRIC NEPHROLOGY

Decreased renal uptake of 99mTc-DMSA in patients with tubular proteinuria

(2009) Beom Hee Lee et al.   PEDIATRIC NEPHROLOGY

Focal segmental glomerulosclerosis in a boy with Dent-2 disease

(2009) Kazunari Kaneko et al.   PEDIATRIC NEPHROLOGY

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

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

Tigroid pattern on magnetic resonance imaging in Lowe syndrome

(2008) Mehmet Ruhi Onur et al.   JOURNAL OF CLINICAL NEUROSCIENCE