Mutation Update of theCLCN5Gene Responsible for Dent Disease 1

Expanding the phenotype of proteinuria in Dent disease. A case series

(2014) Monica T. Cramer et al.   PEDIATRIC NEPHROLOGY

A Patient with Nephrotic-Range Proteinuria and Focal Global Glomerulosclerosis

(2013) F. C. Fervenza   Clinical Journal of the American Society of Nephrology

Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria

(2013) Takashi Sekine et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

(2012) Maria Addis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

(2011) Takayuki Okamoto et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

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

ClC-5 mutations associated with Dent’s disease: a major role of the dimer interface

(2011) Stéphane Lourdel et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

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

The Late Endosomal ClC-6 Mediates Proton/Chloride Countertransport in Heterologous Plasma Membrane Expression

(2010) Ioana Neagoe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dent's disease

(2010) Olivier Devuyst et al.   Orphanet Journal of Rare Diseases

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

(2010) Radovan Bogdanović et al.   PEDIATRIC NEPHROLOGY

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

(2010) G. Novarino et al.   SCIENCE

Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1

(2009) E Tosetto et al.   CLINICAL GENETICS

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

Novel CLCN5 mutations in patients with Dent’s disease result in altered ion currents or impaired exchanger processing

(2009) Teddy Grand et al.   KIDNEY INTERNATIONAL

Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease

(2009) Fiona Wu 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

Effect of Hydrochlorothiazide on Urinary Calcium Excretion in Dent Disease: An Uncontrolled Trial

(2008) Anne Blanchard et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Phenotype and genotype of Dent's disease in three Chinese boys

(2008) PENG LI et al.   NEPHROLOGY