{"id":"https://openalex.org/W3212965265","doi":"https://doi.org/10.14309/ctg.0000000000000427","title":"A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations","display_name":"A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations","publication_year":2021,"publication_date":"2021-11-01","ids":{"openalex":"https://openalex.org/W3212965265","doi":"https://doi.org/10.14309/ctg.0000000000000427","mag":"3212965265","pmid":"https://pubmed.ncbi.nlm.nih.gov/34797252","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8604003"},"language":"en","primary_location":{"id":"doi:10.14309/ctg.0000000000000427","doi":"https://doi.org/10.14309/ctg.0000000000000427","is_oa":true,"landing_page_url":"https://doi.org/10.14309/ctg.0000000000000427","pdf_url":null,"source":{"id":"https://openalex.org/S2764670792","display_name":"Clinical and Translational Gastroenterology","issn_l":"2155-384X","issn":["2155-384X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Gastroenterology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.14309/ctg.0000000000000427","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111662051","display_name":"Anke H.M. van Vugt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I193662353","display_name":"Utrecht University","ror":"https://ror.org/04pp8hn57","country_code":"NL","type":"education","lineage":["https://openalex.org/I193662353"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]},{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Anke H.M. van Vugt","raw_affiliation_strings":["Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;","Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916","https://openalex.org/I4210162850"]},{"raw_affiliation_string":"Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands;","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023055657","display_name":"Marcel J. C. Bijvelds","orcid":"https://orcid.org/0000-0003-0814-188X","observed_orcids":["https://orcid.org/0000-0003-0814-188X"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Marcel J.C. Bijvelds","raw_affiliation_strings":["Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052613378","display_name":"Hugo R. de Jonge","orcid":"https://orcid.org/0000-0003-2777-4084","observed_orcids":["https://orcid.org/0000-0003-2777-4084","https://orcid.org/0000-0001-7596-7433"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hugo R. de Jonge","raw_affiliation_strings":["Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005480240","display_name":"Kelly F. Meijsen","orcid":"https://orcid.org/0000-0003-2061-3480","observed_orcids":["https://orcid.org/0000-0003-2061-3480"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Kelly F. Meijsen","raw_affiliation_strings":["Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052680913","display_name":"Tanja Restin","orcid":"https://orcid.org/0000-0002-8816-6069","observed_orcids":["https://orcid.org/0000-0002-8816-6069"]},"institutions":[{"id":"https://openalex.org/I202697423","display_name":"University of Zurich","ror":"https://ror.org/02crff812","country_code":"CH","type":"education","lineage":["https://openalex.org/I202697423"]},{"id":"https://openalex.org/I4210100468","display_name":"University Hospital Zurich","ror":"https://ror.org/01462r250","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210100468"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Tanja Restin","raw_affiliation_strings":["Institute of Physiology, University of Zurich, Zurich, Switzerland;","Newborn Research Z\u00fcrich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Physiology, University of Zurich, Zurich, Switzerland;","institution_ids":["https://openalex.org/I202697423"]},{"raw_affiliation_string":"Newborn Research Z\u00fcrich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland;","institution_ids":["https://openalex.org/I202697423","https://openalex.org/I4210100468"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069644620","display_name":"Manuel B. Bryant","orcid":"https://orcid.org/0000-0002-5981-1006","observed_orcids":["https://orcid.org/0000-0002-5981-1006"]},"institutions":[{"id":"https://openalex.org/I202697423","display_name":"University of Zurich","ror":"https://ror.org/02crff812","country_code":"CH","type":"education","lineage":["https://openalex.org/I202697423"]},{"id":"https://openalex.org/I4210100468","display_name":"University Hospital Zurich","ror":"https://ror.org/01462r250","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210100468"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Manuel B. Bryant","raw_affiliation_strings":["Newborn Research Z\u00fcrich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Newborn Research Z\u00fcrich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland;","institution_ids":["https://openalex.org/I202697423","https://openalex.org/I4210100468"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008779270","display_name":"Antje Ballauff","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103130","display_name":"Helios Klinikum Krefeld","ror":"https://ror.org/01be19w37","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103130","https://openalex.org/I4210138940"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Antje Ballauff","raw_affiliation_strings":["Kinder- und Jugendmedizin, Helios Klinikum, Krefeld, Germany;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kinder- und Jugendmedizin, Helios Klinikum, Krefeld, Germany;","institution_ids":["https://openalex.org/I4210103130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070828788","display_name":"Bart G.P. Koot","orcid":"https://orcid.org/0000-0002-4350-3084","observed_orcids":["https://orcid.org/0000-0002-4350-3084"]},"institutions":[{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Bart Koot","raw_affiliation_strings":["Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Gastroenterology, Amsterdam, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Gastroenterology, Amsterdam, the Netherlands;","institution_ids":["https://openalex.org/I4210096594","https://openalex.org/I4210151833","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101764608","display_name":"Thomas M\u00fcller","orcid":"https://orcid.org/0000-0001-8908-5589","observed_orcids":["https://orcid.org/0000-0001-8908-5589"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Thomas M\u00fcller","raw_affiliation_strings":["Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria;","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058559696","display_name":"Roderick H.J. Houwen","orcid":"https://orcid.org/0000-0001-6124-7937","observed_orcids":["https://orcid.org/0000-0001-6124-7937"]},"institutions":[{"id":"https://openalex.org/I193662353","display_name":"Utrecht University","ror":"https://ror.org/04pp8hn57","country_code":"NL","type":"education","lineage":["https://openalex.org/I193662353"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]},{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Roderick H.J. Houwen","raw_affiliation_strings":["Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065706727","display_name":"Andreas Janecke","orcid":"https://orcid.org/0000-0001-7155-0315","observed_orcids":["https://orcid.org/0000-0001-7155-0315"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":true,"raw_author_name":"Andreas R. Janecke","raw_affiliation_strings":["Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria;","Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria;"],"raw_orcid":"https://orcid.org/0000-0001-7155-0315","affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria;","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]},{"raw_affiliation_string":"Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria;","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007820477","display_name":"Sabine Middendorp","orcid":"https://orcid.org/0000-0002-0925-0095","observed_orcids":["https://orcid.org/0000-0002-0925-0095"]},"institutions":[{"id":"https://openalex.org/I193662353","display_name":"Utrecht University","ror":"https://ror.org/04pp8hn57","country_code":"NL","type":"education","lineage":["https://openalex.org/I193662353"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]},{"id":"https://openalex.org/I4210122004","display_name":"Gadeta (Netherlands)","ror":"https://ror.org/03qjsg132","country_code":"NL","type":"company","lineage":["https://openalex.org/I4210122004"]},{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Sabine Middendorp","raw_affiliation_strings":["Current affiliation: Gadeta BV, Utrecht, the Netherlands","Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;","Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Current affiliation: Gadeta BV, Utrecht, the Netherlands","institution_ids":["https://openalex.org/I4210122004"]},{"raw_affiliation_string":"Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands;","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916","https://openalex.org/I4210162850"]},{"raw_affiliation_string":"Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands;","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5007820477","https://openalex.org/A5023055657","https://openalex.org/A5058559696","https://openalex.org/A5065706727","https://openalex.org/A5111662051"],"corresponding_institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584","https://openalex.org/I193662353","https://openalex.org/I2801952686","https://openalex.org/I3018483916","https://openalex.org/I4210122004","https://openalex.org/I4210162850"],"apc_list":{"value":2800,"currency":"USD","value_usd":2800},"apc_paid":{"value":2800,"currency":"USD","value_usd":2800},"fwci":1.7043,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.83572214,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":97},"biblio":{"volume":"12","issue":"11","first_page":"e00427","last_page":"e00427"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.6547999978065491,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.6547999978065491,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.155799999833107,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10365","display_name":"Gastrointestinal motility and disorders","score":0.08449999988079071,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7789999842643738},{"id":"https://openalex.org/keywords/guanylate-cyclase-c","display_name":"guanylyl cyclase C","score":0.9800000190734863},{"id":"https://openalex.org/keywords/cgmp","display_name":"cyclic GMP","score":0.8899999856948853},{"id":"https://openalex.org/keywords/chloride-secretion","display_name":"chloride secretion","score":0.8610000014305115},{"id":"https://openalex.org/keywords/cystic-fibrosis-transmembrane-conductance-regulator","display_name":"cystic fibrosis transmembrane conductance regulator","score":0.9210000038146973},{"id":"https://openalex.org/keywords/intestinal-organoids","display_name":"intestinal organoids","score":0.9010000228881836},{"id":"https://openalex.org/keywords/heat-stable-enterotoxin","display_name":"heat-stable enterotoxin","score":0.9430000185966492},{"id":"https://openalex.org/keywords/persistent-diarrhea","display_name":"persistent diarrhea","score":0.7329999804496765}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8538693189620972},{"id":"https://openalex.org/C2779802037","wikidata":"https://www.wikidata.org/wiki/Q40878","display_name":"Diarrhea","level":2,"score":0.7162253856658936},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.45358943939208984},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3836052417755127},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3286508321762085}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000073659","descriptor_name":"Gain of Function Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000074261","descriptor_name":"Receptors, Enterotoxin","qualifier_ui":"Q000037","qualifier_name":"antagonists & inhibitors","is_major_topic":true},{"descriptor_ui":"D000074261","descriptor_name":"Receptors, Enterotoxin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006152","descriptor_name":"Cyclic GMP","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006576","descriptor_name":"Heterocyclic Compounds, 4 or More Rings","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":13,"locations":[{"id":"doi:10.14309/ctg.0000000000000427","doi":"https://doi.org/10.14309/ctg.0000000000000427","is_oa":true,"landing_page_url":"https://doi.org/10.14309/ctg.0000000000000427","pdf_url":null,"source":{"id":"https://openalex.org/S2764670792","display_name":"Clinical and Translational Gastroenterology","issn_l":"2155-384X","issn":["2155-384X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Gastroenterology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8604003","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8604003/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8604003/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Transl Gastroenterol","raw_type":"Text"},{"id":"pmid:34797252","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34797252","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and translational gastroenterology","raw_type":"Journal Article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire/605319fd-41e9-4d66-a702-c942052f39e5","doi":null,"is_oa":true,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/605319fd-41e9-4d66-a702-c942052f39e5","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, M\u00fcller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, 'A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations', Clinical and translational gastroenterology, vol. 12, no. 11, pp. e00427. https://doi.org/10.14309/ctg.0000000000000427","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:openaire/6eb47166-4c50-473b-8c96-c43bc7313829","doi":null,"is_oa":true,"landing_page_url":"https://research.vumc.nl/en/publications/6eb47166-4c50-473b-8c96-c43bc7313829","pdf_url":null,"source":{"id":"https://openalex.org/S7407055350","display_name":"Amsterdam UMC (VU Amsterdam) - Institutional Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, M\u00fcller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, 'A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations', CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, vol. 12, no. 11, pp. e00427. https://doi.org/10.14309/ctg.0000000000000427","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.eur.nl:openaire/476a3967-0cd2-4270-92cc-95c7bcb17260","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/476a3967-0cd2-4270-92cc-95c7bcb17260","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, M\u00fcller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, 'A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations', Clinical and Translational Gastroenterology, vol. 12, no. 11, e00427. https://doi.org/10.14309/ctg.0000000000000427","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.zora.uzh.ch:209556","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/id/eprint/209556/1/vanVugt_Bryant_CongSodiumDiarrhea_ClinTransl_astroenterol_2021_Neo_USZ.pdf","pdf_url":"https://www.zora.uzh.ch/id/eprint/209556/1/vanVugt_Bryant_CongSodiumDiarrhea_ClinTransl_astroenterol_2021_Neo_USZ.pdf","source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"van Vugt, Anke H M; Bijvelds, Marcel J C; de Jonge, Hugo R; Meijsen, Kelly F; Restin, Tanja; Bryant, Manuel B; Ballauff, Antje; Koot, Bart; M\u00fcller, Thomas; Houwen, Roderick H J; Janecke, Andreas R; Middendorp, Sabine (2021). A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations. Clinical and Translational Gastroenterology, 12(11):e00427.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/c1ecfc8b-1c5b-49bb-9c80-1f681420160c","doi":null,"is_oa":true,"landing_page_url":"https://pure.amc.nl/en/publications/a-potential-treatment-of-congenital-sodium-diarrhea-in-patients-with-activating-gucy2c-mutations(c1ecfc8b-1c5b-49bb-9c80-1f681420160c).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical and translational gastroenterology, 12(11). Nature Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/476a3967-0cd2-4270-92cc-95c7bcb17260","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/476a3967-0cd2-4270-92cc-95c7bcb17260","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical and Translational Gastroenterology, 12(11):e00427. Nature Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:dspace.library.uu.nl:1874/444942","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/444942","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/188322","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/188322","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van Vugt, A. H. M., Bijvelds, M. J. C., de Jonge, H. R., Meijsen, K. F., Restin, T., Bryant, M. B., Ballauff, A., Koot, B., M\u00fcller, T., Houwen, R. H. J., Janecke, A. R., & Middendorp, S. (2021). A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations. Clinical and Translational Gastroenterology, 12, e00427. https://doi.org/10.14309/ctg.0000000000000427","raw_type":"Journal Article"},{"id":"pmh:vumc:oai:pure.atira.dk:publications/6eb47166-4c50-473b-8c96-c43bc7313829","doi":null,"is_oa":true,"landing_page_url":"https://research.vumc.nl/en/publications/6eb47166-4c50-473b-8c96-c43bc7313829","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, 12(11). Nature Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"doi:10.5167/uzh-209556","doi":"https://doi.org/10.5167/uzh-209556","is_oa":true,"landing_page_url":"https://doi.org/10.5167/uzh-209556","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.14309/ctg.0000000000000427","doi":"https://doi.org/10.14309/ctg.0000000000000427","is_oa":true,"landing_page_url":"https://doi.org/10.14309/ctg.0000000000000427","pdf_url":null,"source":{"id":"https://openalex.org/S2764670792","display_name":"Clinical and Translational Gastroenterology","issn_l":"2155-384X","issn":["2155-384X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Gastroenterology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1130021892","display_name":null,"funder_award_id":"016.146.353","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"},{"id":"https://openalex.org/G1720968970","display_name":null,"funder_award_id":"SRC011","funder_id":"https://openalex.org/F4320320009","funder_display_name":"Cystic Fibrosis Trust"},{"id":"https://openalex.org/G4095969453","display_name":null,"funder_award_id":"VIDI 016.146.353","funder_id":"https://openalex.org/F4320321007","funder_display_name":"ZonMw"},{"id":"https://openalex.org/G6640577650","display_name":null,"funder_award_id":"VIDI 016.146.353","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320320009","display_name":"Cystic Fibrosis Trust","ror":"https://ror.org/03xeae684"},{"id":"https://openalex.org/F4320321007","display_name":"ZonMw","ror":"https://ror.org/01yaj9a77"},{"id":"https://openalex.org/F4320321010","display_name":"Universiteit Utrecht","ror":"https://ror.org/04pp8hn57"},{"id":"https://openalex.org/F4320321800","display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","ror":"https://ror.org/04jsz6e67"},{"id":"https://openalex.org/F4320323874","display_name":"Universit\u00e4t Z\u00fcrich","ror":"https://ror.org/02crff812"},{"id":"https://openalex.org/F4320325738","display_name":"Universit\u00e4tsspital Z\u00fcrich","ror":"https://ror.org/01462r250"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3212965265.pdf","grobid_xml":"https://content.openalex.org/works/W3212965265.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1826846001","https://openalex.org/W1992726845","https://openalex.org/W2016155421","https://openalex.org/W2080039779","https://openalex.org/W2157694367","https://openalex.org/W2166603581","https://openalex.org/W2465987013","https://openalex.org/W2737725416","https://openalex.org/W2790372623","https://openalex.org/W2795086358","https://openalex.org/W2797513002","https://openalex.org/W2949786206","https://openalex.org/W3097913989","https://openalex.org/W3157101248"],"related_works":["https://openalex.org/W2166603581","https://openalex.org/W2333285972","https://openalex.org/W3157101248","https://openalex.org/W2142798158","https://openalex.org/W2080039779","https://openalex.org/W4313487853","https://openalex.org/W3126851410","https://openalex.org/W2763426033","https://openalex.org/W2026504055","https://openalex.org/W2799899084"],"abstract_inverted_index":{"INTRODUCTION:":[0],"Gain-of-function":[1],"mutations":[2,59,143],"in":[3,9,49,92,105,123,134],"guanylyl":[4],"cyclase":[5],"C":[6],"(GCC)":[7],"result":[8],"persistent":[10,157],"diarrhea":[11],"with":[12,55,63,69,140],"perinatal":[13],"onset.":[14],"We":[15,30,121],"investigated":[16,31],"a":[17],"specific":[18],"GCC":[19,58,68,128,141],"inhibitor,":[20],"SSP2518,":[21],"for":[22,113],"its":[23],"potential":[24],"to":[25,89],"treat":[26],"this":[27,124],"disorder.":[28],"METHODS:":[29],"the":[32,127,154],"effect":[33],"of":[34,67,156],"SSP2518":[35,88,97,130],"on":[36,45],"GCC-mediated":[37,46],"intracellular":[38],"cyclic":[39],"guanosine":[40],"monophosphate":[41],"(cGMP)":[42],"levels":[43,80,90,101,133],"and":[44,60,64,102,107,144],"chloride":[47,103,152],"secretion":[48,104],"intestinal":[50,135],"organoids":[51,74,109,136],"from":[52,61,138],"3":[53],"patients":[54,139],"distinct":[56],"activating":[57],"controls,":[62],"without":[65],"stimulation":[66],"heat-stable":[70,117],"enterotoxin.":[71],"RESULTS:":[72],"Patient-derived":[73],"had":[75],"significantly":[76,98],"higher":[77],"basal":[78],"cGMP":[79,100,132],"than":[81],"control":[82,93,108],"organoids,":[83],"which":[84],"were":[85],"lowered":[86],"by":[87],"found":[91],"organoids.":[94],"In":[95],"addition,":[96],"reduced":[99],"patient-derived":[106],"(P":[110],"<":[111],"0.05":[112],"all":[114],"comparisons)":[115],"after":[116],"enterotoxin":[118],"stimulation.":[119],"DISCUSSION:":[120],"reported":[122],"study":[125],"that":[126],"inhibitor":[129],"normalizes":[131],"derived":[137],"gain-of-function":[142],"markedly":[145],"reduces":[146],"cystic":[147],"fibrosis":[148],"transmembrane":[149],"conductance":[150],"regulator-dependent":[151],"secretion,":[153],"driver":[155],"diarrhea.":[158]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2021-11-22T00:00:00"}