Transient Antenatal Bartter ’ s Syndrome , and MAGED 2 Mutations

METHODS To uncover the molecular cause of this possibly X-linked disease, we performed wholeexome sequencing of DNA from two members of the index family and targeted gene analysis of other members of this family and of six additional families with affected male fetuses. We also evaluated a series of women with idiopathic polyhydramnios who were pregnant with male fetuses. We performed immunohistochemical analysis, knockdown and overexpression experiments, and protein–protein interaction studies.

[1]  M. Kanda,et al.  The Expression of Melanoma-Associated Antigen D2 Both in Surgically Resected and Serum Samples Serves as Clinically Relevant Biomarker of Gastric Cancer Progression , 2016, Annals of Surgical Oncology.

[2]  Peter Nürnberg,et al.  Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. , 2014, American journal of human genetics.

[3]  A. Subramanya,et al.  Hsp70 and Hsp90 Multichaperone Complexes Sequentially Regulate Thiazide-sensitive Cotransporter Endoplasmic Reticulum-associated Degradation and Biogenesis* , 2013, The Journal of Biological Chemistry.

[4]  P. Hersey,et al.  The melanoma-associated antigen MAGE-D2 suppresses TRAIL receptor 2 and protects against TRAIL-induced apoptosis in human melanoma cells. , 2012, Carcinogenesis.

[5]  J. Reese,et al.  Evidence-based use of indomethacin and ibuprofen in the neonatal intensive care unit. , 2012, Clinics in perinatology.

[6]  P. Ortiz,et al.  Molecular regulation of NKCC2 in the thick ascending limb. , 2011, American journal of physiology. Renal physiology.

[7]  Maojun Yang,et al.  MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. , 2010, Molecular cell.

[8]  C. Guyot,et al.  Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[9]  F. Groenendaal,et al.  Idiopathic polyhydramnios and postnatal findings , 2009, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[10]  J. Karar,et al.  Endoplasmic reticulum stress response in murine kidney exposed to acute hypobaric hypoxia , 2008, FEBS letters.

[11]  A. Cantone,et al.  Mouse model of type II Bartter's syndrome. I. Upregulation of thiazide-sensitive Na-Cl cotransport activity. , 2008, American journal of physiology. Renal physiology.

[12]  Roberto Romero,et al.  Epidemiology and causes of preterm birth , 2008, The Lancet.

[13]  D. Doherty,et al.  A Review of Idiopathic Hydramnios and Pregnancy Outcomes , 2007, Obstetrical & gynecological survey.

[14]  J. Langhoff‐Roos,et al.  Acute Recurrent Polyhydramnios: A Combination of Amniocenteses and NSAID May Be Curative Rather than Palliative , 2007, Fetal Diagnosis and Therapy.

[15]  S. Waldegger,et al.  Salt handling in the distal nephron: lessons learned from inherited human disorders. , 2005, American journal of physiology. Regulatory, integrative and comparative physiology.

[16]  M. Bertrand,et al.  Comparative expression analysis of the MAGED genes during embryogenesis and brain development , 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

[17]  L. P. Van den Heuvel,et al.  Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells. , 2003, Journal of the American Society of Nephrology : JASN.

[18]  B. Tönshoff,et al.  Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. , 2002, The American journal of medicine.

[19]  M. Ross,et al.  National Institute of Child Health and Development Conference summary: Amniotic fluid biology - basic and clinical aspects , 2001, The Journal of maternal-fetal medicine.

[20]  J N Martin,et al.  The amniotic fluid index, single deepest pocket, and two-diameter pocket in normal human pregnancy. , 2000, American journal of obstetrics and gynecology.

[21]  P. Brown,et al.  Degradation of proteins from the ER of S. cerevisiae requires an intact unfolded protein response pathway. , 2000, Molecular cell.

[22]  L. Weinstein,et al.  Decreased renal Na-K-2Cl cotransporter abundance in mice with heterozygous disruption of the G(s)alpha gene. , 1999, The American journal of physiology.

[23]  H. Devlieger,et al.  Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms , 1998, Pediatric Nephrology.

[24]  K. Klinger,et al.  Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. , 1995, Gene.

[25]  M. Brezis,et al.  Hypoxia of the renal medulla--its implications for disease. , 1995, The New England journal of medicine.

[26]  H. Seyberth,et al.  Determination of seven prostanoids in 1 ml of urine by gas chromatography-negative ion chemical ionization triple stage quadrupole mass spectrometry. , 1994, Journal of chromatography.

[27]  K. Schärer,et al.  Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. , 1985, The Journal of pediatrics.

[28]  P. Lijnen,et al.  The renin-angiotensin-aldosterone system in infancy and childhood in basal conditions and after stimulation , 1984, European Journal of Pediatrics.

[29]  F. Morel,et al.  Ontogenesis of hormone-dependent adenylate cyclase in isolated rat nephron segments. , 1984, The American journal of physiology.

[30]  Pitkin Rm.  Acute polyhydramnios recurrent in successive pregnancies. Management with multiple amniocenteses. , 1976 .

[31]  M. Heymann,et al.  Studies on the Circulation of the Previable Human Fetus , 1971, Pediatric Research.

[32]  P. Ortiz,et al.  Molecular regulation of NKCC 2 in the thick ascending limb , 2011 .

[33]  K. Eckardt,et al.  Expression of hypoxia-inducible transcription factors in developing human and rat kidneys. , 2006, Kidney international.

[34]  E. Zimmer,et al.  Acute polyhydramnios recurrent in four pregnancies. A case report. , 1987, The Journal of reproductive medicine.

[35]  D. Schlondorff,et al.  Vasopressin responsiveness of renal adenylate cyclase in newborn rats and rabbits. , 1978, The American journal of physiology.