{"database":"MassIVE","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://massive-ftp.ucsd.edu/x01/MSV000080703/"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":{"citationCount":0,"reanalysisCount":0,"viewCount":0,"searchCount":0},"additional":{"submitter":["Markus Rinschen"],"full_dataset_link":["https://massive.ucsd.edu/ProteoSAFe/dataset.jsp?task=2ac79072cb1f4675bba8aacb4debcf00"],"submitter_email":["markus.rinschen@uk-koeln.de"],"sample_protocol":[""],"repository":["MassIVE"],"file_size":["24"],"ptm_modification":["MS:1002864 - No post-translational-modifications are included in the identified peptides of this dataset"],"data_protocol":[""],"omics_type":["Proteomics"],"instrument_platform":["Q Exactive"],"species":["Homo Sapiens (ncbitaxon:9606)"],"submitter_affiliation":["University Hospital Cologne"],"pubmed_abstract":["<h4>Background</h4>Three pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome.<h4>Methods</h4>To uncover the molecular cause of this possibly X-linked disease, we performed whole-exome 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.<h4>Results</h4>We identified a mutation in MAGED2 in each of the 13 infants in our analysis who had transient antenatal Bartter's syndrome. MAGED2 encodes melanoma-associated antigen D2 (MAGE-D2) and maps to the X chromosome. We also identified two different MAGED2 mutations in two families with idiopathic polyhydramnios. Four patients died perinatally, and 11 survived. The initial presentation was more severe than in known types of antenatal Bartter's syndrome, as reflected by an earlier onset of polyhydramnios and labor. All symptoms disappeared spontaneously during follow-up in the infants who survived. We showed that MAGE-D2 affects the expression and function of the sodium chloride cotransporters NKCC2 and NCC (key components of salt reabsorption in the distal renal tubule), possibly through adenylate cyclase and cyclic AMP signaling and a cytoplasmic heat-shock protein.<h4>Conclusions</h4>We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome. MAGE-D2 is essential for fetal renal salt reabsorption, amniotic fluid homeostasis, and the maintenance of pregnancy. (Funded by the University of Groningen and others.)."],"pubmed_title":["Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations."],"pubmed_authors":["Laghmani Kamel K, Beck Bodo B BB, Yang Sung-Sen SS, Seaayfan Elie E, Wenzel Andrea A, Reusch Björn B, Vitzthum Helga H, Priem Dario D, Demaretz Sylvie S, Bergmann Klasien K, Duin Leonie K LK, Göbel Heike H, Mache Christoph C, Thiele Holger H, Bartram Malte P MP, Dombret Carlos C, Altmüller Janine J, Nürnberg Peter P, Benzing Thomas T, Levtchenko Elena E, Seyberth Hannsjörg W HW, Klaus Günter G, Yigit Gökhan G, Lin Shih-Hua SH, Timmer Albert A, de Koning Tom J TJ, Scherjon Sicco A SA, Schlingmann Karl P KP, Bertrand Mathieu J M MJ, Rinschen Markus M MM, de Backer Olivier O, Konrad Martin M, Kömhoff Martin M"],"pubmed_abstract_synonyms":["Networks, Forms, renal tubule (generic), fetus stage, Materials, Kinship, determination, 5'-cyclic monophosphate, embryo late stage, X Chromosomes, protein, urehr3, Adenylyl Cyclase, Circulatory Collapse, Mutations, Techniques, protein polypeptide chains, halite, PREGN, Adenylate Cyclase, Henle's loop type, diseases, Increased urine output, Method, Hot, ionic compounds, symptoms, 5' Monophosphate, Life Cycle, Msal-1, Heat, Whole Transcriptome, Transcriptome Sequencing, cyclic 3', (2Z)-but-2-enedioate, protein aggregate, Adenosine Cyclic Monophosphate, IKKg, male, Family Life Cycle, KEY, Key, Adenosine Cyclic 3, Shock, Disodium Salt, 11B6, thymus nucleic acid, Adenyl Cyclase, Kinship Network, Migrant Worker, Fluid Indices, cAMP, Complete Exome Sequencing, Whole Transcriptome Sequencing, Tissue, Nonmigrant, Salt, (24)NaCl, mBSC1, Age of onset, 3', Msal, Fluid Index, proteins, Cyclic Monophosphate, procedures, X, inhibition of homeostatic process, Structures, Transient, sel, Salz, Cyclic 3', Mummified, salts, cloruro sodico, salt, X-linked genetic, Methodological Studies, Fetal, tubule of excretory system, Bartter's syndrome, Squatters, homeostasis, Fetal Structure, Polyurias, Double-Stranded DNA, deoxyribonucleic acids, Family Life Cycles, DNAn, Adenosine Cyclic 3', Potassium wasting, single organism signaling, University., Hydramnios, renal tubular normotensive hypokalemic alkalosis with hypercalciuria, genetic diseases, screening, rock salt, AMP Synthetase, Adenosine Cyclic, Indices, Index, Melanoma-associated antigen D2, Exome, Maps, X linked, Circulatory Failure, Double-Stranded, Procedure, MAGE-D2, genetic disease, Girl, results, 5'-phosphate, (Deoxyribonucleotide)n+m, Amniotic, DmIKKgamma, Adenyl, common salt, Nkcc2, Cyclic AMP, positive regulation of homeostatic process, cya, dIKK, tubulus renalis, (R)-Isomer, Migrant, Kenny, Genetic Materials, Workers, Filiation, desoxyribose nucleic acid, Migrants and Transients, Genetic Material, NCCT, Complete Transcriptome, Spalt, maleate, Amniotic Fluid Indices, ionic compound, follow up, IKK-gamma, signs, BCG1, INSDC_feature:gene, Methodological, Fetus, natrii chloridum, Methodological Study, Salt-wasting tubulopathy, ATP pyrophosphate-lyase (cyclizing), Life Cycles, Adenosine, disease, Sodium Salt, DmelCG16910, Fetal Tissues, Chromosome, Patient, Material, fetal stage, ds DNA, Adenosine 3', Whole Exome Sequencing, Hot Temperatures, Migrants, Cistron, Retained, X chromosome linked, Cyclase, DNA, Mage-d2, Monophosphate, liquor amnii, Transcriptome Sequencings, adenosine 3', Family Member, X-linked, DNS, salt-wasting tubulopathy, Procedures, Increased amniotic fluid index, (Deoxyribonucleotide)n, Complete Exome, Circulatory, Gene, Network, protein-containing complex, Migrant Workers, Chromosomes, dIKK-gamma, Pregnancies, salt-losing tubular disorder, Deoxyribonucleic acids, Failure, JCL-1, Fetuses, Deoxyribonucleic Acid, polypeptide chain, Adenylyl, Cyclic adenylic acid, DmIKK-gamma, Girls, NCC, Studies, Gene Products, dmIKKgamma, IKK[[gamma]], Technique, fetus, X-linked genetic diseases, WES, Complete, Exome Sequencings, Genetic, Adenylate, MAGED, Research, Tissues, gravid, (22)Na, renal tubule, Transients, Monosodium Salt, chlorure de sodium, HCA10, Nonmigrants, Double Stranded, Deoxyribonucleic acid, 5'-cyclic AMP Synthetase, Worker, Maintenances, Structure, Sequencing, 5'-Monophosphate, Hypovolemic Shock, Squatter, Study, Sodium Chloride, Hypovolemic, Whole Exome, IKK, Cyclic-3', uriniferous tubule, Amniotic Fluids, sels, Clients, Whole, Kochsalz, negative regulation of homeostatic process, Amniotic Fluid, (Deoxyribonucleotide)m, Kinship Networks, Family, 5 Monophosphate, Autoregulation, X linked genetic diseases, Monoammonium Salt, AI035291, 5' cyclic AMP Synthetase, findings, Complete Exome Sequencings, Amniotic Fluid Index, Family Research, Infants, Women's Group, BCG-1, Males, protein complex, sales, DNAn+1, Women Groups, Cyclases, Proteins, Fluids, function, pregnant adult, Cistrons, Woman, Client, embryo late growth stage, pregnant, Family Members, IKKgamma, Exome Sequencing, AMP, TSC, Fluid, native protein, Temperatures, Natriumchlorid, natural protein, Adenosine Cyclic-3', 5'-cyclic phosphate, chemical analysis, Protein, Nomad, Bartter disease, Synthetase, table salt, X-linked genetic disease, background, techniques, ds-DNA, NaCl, regulation of homeostatic process, Fetal Structures, 4833439A22Rik, Sal, Mummified Fetus, Salt-losing tubular disorder, Temperature, Complete Transcriptome Sequencing, Gestation, Dmikkgamma, Renal tubular normotensive hypokalemic alkalosis with hypercalciuria, Women's Groups, Sodium chloride (NaCl), acqua amnii, B130022O04Rik, Monopotassium Salt, 5'-(hydrogen phosphate), Salze, Age symptoms begin, CG16910, kidney tubule, Fetal Tissue, hypokalemic alkalosis, 5'-CYCLIC-MONOPHOSPHATE, High levels of amniotic fluid, introduction, sal, 5'-cyclic AMP, male human body, Protein Gene Products, D630042G03Rik, Collapse, Gene Proteins, Retained Fetus, activation of homeostatic process, signalling process, aldosteronism with hyperplasia of the adrenal cortex, hypokalemic alkalosis with hypercalciuria, Families, Dietary Sodium, ORF1, Indexes, 5'-cyclic, Nomads, ADENOSINE-3', Bartter syndrome, Desoxyribonukleinsaeure, assay, Cyclic, X-chromosome linked, Relatives, Severe, AI788571, methodology"],"name_synonyms":["11B6, JCL-1, MAGED, determination, ORF1, chemical analysis, HCA10, BCG1, BCG-1., assay, Mage-d2, 4833439A22Rik, MAGE-D2"],"pubmed_title_synonyms":["Salt-losing tubular disorder, 11B6, Migrant Worker, salt-wasting tubulopathy, MAGED, Increased amniotic fluid index, BCG-1, Transients, Renal tubular normotensive hypokalemic alkalosis with hypercalciuria, Nonmigrant, HCA10, Nonmigrants, BCG1, Worker, MAGE-D2, Transient, hypokalemic alkalosis, High levels of amniotic fluid, Migrant Workers, salt-losing tubular disorder, Salt-wasting tubulopathy, Squatter, JCL-1, Henle's loop type, aldosteronism with hyperplasia of the adrenal cortex, hypokalemic alkalosis with hypercalciuria, Bartter's syndrome, ORF1, Migrant, Nomads, Squatters, Nomad, Bartter disease, Bartter syndrome, Migrants, Mutations., Workers, Mage-d2, 4833439A22Rik, Migrants and Transients, Potassium wasting, Hydramnios, renal tubular normotensive hypokalemic alkalosis with hypercalciuria"],"description_synonyms":["HEK293T, Hek 293T, 11B6, Human Embryonic Kidney 293T, JCL-1, 293-T, HEK-293T, MAGED, 293tsA1609neo, ORF1, BCG-1, HCA10, Cell., BCG1, HEK 293 T, Mage-d2, 4833439A22Rik, MAGE-D2, 293 T, HEK-293-T, 293T"],"citation_count":["0"],"additional_accession":["PXD003279"]},"is_claimable":true,"name":"Analysis of the MAGED2 interactome","description":"The MAGED2 interactome was analyzed in HEK293T cells using three different strategies.","dates":{"publication":"Tue Mar 28 21:47:00 BST 2017"},"accession":"MSV000080703","cross_references":{"pubmed":["27120771"]}}