Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

[1]  S. Jackson,et al.  The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease , 2020, Kidney international.

[2]  F. Anglani,et al.  Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon , 2020, Human Genetics.

[3]  Oculocerebrorenal Syndrome , 2020, Definitions.

[4]  Alexandros Kouris,et al.  VarSome: the human genomic variant search engine , 2018, bioRxiv.

[5]  J. Thevenon,et al.  “Lowe syndrome: A particularly severe phenotype without clinical kidney involvement” , 2018, American journal of medical genetics. Part A.

[6]  Se Jin Park,et al.  Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort , 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[7]  Lisa E. Vaughan,et al.  Glomerular Pathology in Dent Disease and Its Association with Kidney Function. , 2016, Clinical journal of the American Society of Nephrology : CJASN.

[8]  D. Kahila,et al.  Observations of a large Dent disease cohort. , 2016, Kidney international.

[9]  M. Ludwig,et al.  The oculocerebrorenal syndrome of Lowe: an update , 2016, Pediatric Nephrology.

[10]  J. Connell,et al.  Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. , 2012, Human molecular genetics.

[11]  Hongju Wu,et al.  Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. , 2012, American journal of physiology. Cell physiology.

[12]  T. Sirimanna,et al.  Novel OCRL mutations in patients with Dent-2 disease , 2012, Journal of Pediatric Genetics.

[13]  T. Tajima,et al.  A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5 , 2012, European Journal of Pediatrics.

[14]  M. Marzolo,et al.  OCRL controls trafficking through early endosomes via PtdIns4,5P2‐dependent regulation of endosomal actin , 2011, The EMBO journal.

[15]  R. Salomon,et al.  From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes , 2011, Human mutation.

[16]  R. Nussbaum,et al.  Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. , 2011, Journal of the American Society of Nephrology : JASN.

[17]  O. Devuyst,et al.  Dent's disease , 2010, Orphanet journal of rare diseases.

[18]  M. Ludwig,et al.  A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency , 2010, Pediatric Nephrology.

[19]  E. Tosetto,et al.  Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations , 2009, Pediatric Nephrology.

[20]  V. Tasic,et al.  Dent-2 disease: a mild variant of Lowe syndrome. , 2009, The Journal of pediatrics.

[21]  D. Milford,et al.  OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability , 2009, Nephron Physiology.

[22]  B. Boudailliez,et al.  Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. , 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[23]  E. Brown,et al.  Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. , 2008, Best practice & research. Clinical rheumatology.

[24]  P. Speiser,et al.  Growth Hormone Improves Growth Rate and Preserves Renal Function in Dent Disease , 2008, Journal of pediatric endocrinology & metabolism : JPEM.

[25]  Lawrence Copelovitch,et al.  Published online ahead of print. Publication date available at www.cjasn.org. , 2007 .

[26]  V. Tasic,et al.  Novel OCRL1 mutations in patients with the phenotype of Dent disease. , 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[27]  L. Monnens,et al.  Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. , 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[28]  O. Devuyst,et al.  High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. , 2005, Kidney international.

[29]  M. Ludwig,et al.  CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. , 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[30]  R. Nussbaum,et al.  Dent Disease with mutations in OCRL1. , 2005, American journal of human genetics.

[31]  April M. Koich,et al.  Evidence for genetic heterogeneity in Dent's disease. , 2004, Kidney international.

[32]  R. Ploutz-Snyder,et al.  Responsiveness of hypercalciuria to thiazide in Dent's disease. , 2002, Journal of the American Society of Nephrology : JASN.

[33]  S. Jayawardene,et al.  Dent's disease: can we slow its progression? , 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[34]  M. Coulthard,et al.  A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. , 1996, The New England journal of medicine.

[35]  S. Fisher,et al.  Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). , 1995, Genomics.

[36]  T. Feest,et al.  Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. , 1994, QJM : monthly journal of the Association of Physicians.

[37]  T. Feest,et al.  Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. , 1993, Human molecular genetics.

[38]  W. Gahl,et al.  The oculocerebrorenal syndrome of Lowe. , 1991, Advances in pediatrics.

[39]  C. Dent,et al.  Hypercalcuric Rickets Associated with Renal Tubular Damage , 1964, Archives of disease in childhood.