{"id":"https://openalex.org/W2080039779","doi":"https://doi.org/10.1056/nejmoa1110132","title":"Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation","display_name":"Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation","publication_year":2012,"publication_date":"2012-03-22","ids":{"openalex":"https://openalex.org/W2080039779","doi":"https://doi.org/10.1056/nejmoa1110132","mag":"2080039779","pmid":"https://pubmed.ncbi.nlm.nih.gov/22436048"},"language":"en","primary_location":{"id":"doi:10.1056/nejmoa1110132","doi":"https://doi.org/10.1056/nejmoa1110132","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejmoa1110132","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076072531","display_name":"Torunn Fiskerstrand","orcid":"https://orcid.org/0000-0002-1883-8018","observed_orcids":["https://orcid.org/0000-0002-1883-8018"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Torunn Fiskerstrand","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway. torunn.fiskerstrand@helse-bergen.no","Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","Departments of Clinical Medicine, University of Bergen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway. torunn.fiskerstrand@helse-bergen.no","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Departments of Clinical Medicine, University of Bergen","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005745291","display_name":"Najla Arshad","orcid":"https://orcid.org/0000-0001-5553-311X","observed_orcids":["https://orcid.org/0000-0001-5553-311X"]},"institutions":[{"id":"https://openalex.org/I59270414","display_name":"Indian Institute of Science Bangalore","ror":"https://ror.org/04dese585","country_code":"IN","type":"education","lineage":["https://openalex.org/I59270414"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Najla Arshad","raw_affiliation_strings":["Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India","institution_ids":["https://openalex.org/I59270414"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059646281","display_name":"Bj\u00f8rn Ivar Haukanes","orcid":"https://orcid.org/0000-0003-1559-3366","observed_orcids":["https://orcid.org/0000-0003-1559-3366"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Bj\u00f8rn Ivar Haukanes","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005144435","display_name":"Rune Rose Tronstad","orcid":"https://orcid.org/0000-0002-7227-5762","observed_orcids":["https://orcid.org/0000-0002-7227-5762"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Rune Rose Tronstad","raw_affiliation_strings":["Pediatrics, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038705573","display_name":"Khanh Do-Cong Pham","orcid":"https://orcid.org/0000-0002-6476-1680","observed_orcids":["https://orcid.org/0000-0002-6476-1680"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Khanh Do-Cong Pham","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021148250","display_name":"Stefan Johansson","orcid":"https://orcid.org/0000-0002-2298-7008","observed_orcids":["https://orcid.org/0000-0002-2298-7008"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Stefan Johansson","raw_affiliation_strings":["Biomedicine, University of Bergen","Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedicine, University of Bergen","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091741405","display_name":"Bjarte H\u00e5vik","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Bjarte H\u00e5vik","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","Departments of Clinical Medicine, University of Bergen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Departments of Clinical Medicine, University of Bergen","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098196408","display_name":"Siv L. T\u00f8nder","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Siv L. T\u00f8nder","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034381224","display_name":"Shawn Levy","orcid":"https://orcid.org/0000-0002-1369-5740","observed_orcids":["https://orcid.org/0000-0002-1369-5740"]},"institutions":[{"id":"https://openalex.org/I4210145894","display_name":"HudsonAlpha Institute for Biotechnology","ror":"https://ror.org/04nz0wq19","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210145894"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shawn E. Levy","raw_affiliation_strings":["HudsonAlpha Institute for Biotechnology, Huntsville, AL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HudsonAlpha Institute for Biotechnology, Huntsville, AL","institution_ids":["https://openalex.org/I4210145894"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058770399","display_name":"Damien Brackman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Damien Brackman","raw_affiliation_strings":["Pediatrics, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052355446","display_name":"Helge Boman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Helge Boman","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011860224","display_name":"Kabir Hassan Biswas","orcid":"https://orcid.org/0000-0001-9194-4127","observed_orcids":["https://orcid.org/0000-0001-9194-4127"]},"institutions":[{"id":"https://openalex.org/I59270414","display_name":"Indian Institute of Science Bangalore","ror":"https://ror.org/04dese585","country_code":"IN","type":"education","lineage":["https://openalex.org/I59270414"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Kabir Hassan Biswas","raw_affiliation_strings":["Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India","institution_ids":["https://openalex.org/I59270414"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076607178","display_name":"Jaran Apold","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Jaran Apold","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078678598","display_name":"N Hovdenak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Nils Hovdenak","raw_affiliation_strings":["Departments of Internal Medicine, Haukeland University Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Internal Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027255071","display_name":"Sandhya Srikant Visweswariah","orcid":"https://orcid.org/0000-0003-2786-7344","observed_orcids":["https://orcid.org/0000-0003-2786-7344"]},"institutions":[{"id":"https://openalex.org/I59270414","display_name":"Indian Institute of Science Bangalore","ror":"https://ror.org/04dese585","country_code":"IN","type":"education","lineage":["https://openalex.org/I59270414"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sandhya S. Visweswariah","raw_affiliation_strings":["Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India","institution_ids":["https://openalex.org/I59270414"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5114004657","display_name":"Per Morten Knappskog","orcid":"https://orcid.org/0000-0002-8277-4530","observed_orcids":["https://orcid.org/0000-0002-8277-4530"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Per M. Knappskog","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","Departments of Clinical Medicine, University of Bergen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Departments of Clinical Medicine, University of Bergen","institution_ids":["https://openalex.org/I4432739"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":15.2707,"has_fulltext":false,"cited_by_count":206,"citation_normalized_percentile":{"value":0.99340968,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"366","issue":"17","first_page":"1586","last_page":"1595"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10365","display_name":"Gastrointestinal motility and disorders","score":0.420199990272522,"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"}},"topics":[{"id":"https://openalex.org/T10365","display_name":"Gastrointestinal motility and disorders","score":0.420199990272522,"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"}},{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.20829999446868896,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.05900000035762787,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/gucy2c","display_name":"GUCY2C","score":0.9390000104904175},{"id":"https://openalex.org/keywords/guanylate-cyclase-c","display_name":"guanylyl cyclase C","score":0.9959999918937683},{"id":"https://openalex.org/keywords/activating-mutations","display_name":"activating mutations","score":0.6679999828338623},{"id":"https://openalex.org/keywords/dominant-inheritance","display_name":"dominant inheritance","score":0.6179999709129333},{"id":"https://openalex.org/keywords/chronic-diarrhea","display_name":"chronic diarrhea","score":0.7519999742507935},{"id":"https://openalex.org/keywords/small-bowel-obstruction","display_name":"small bowel obstruction","score":0.9139999747276306},{"id":"https://openalex.org/keywords/esophagitis","display_name":"esophagitis","score":0.996999979019165},{"id":"https://openalex.org/keywords/cftr","display_name":"CFTR","score":0.5979999899864197},{"id":"https://openalex.org/keywords/cgmp-signaling","display_name":"cGMP signaling","score":0.8579999804496765},{"id":"https://openalex.org/keywords/chloride-secretion","display_name":"chloride secretion","score":0.9020000100135803},{"id":"https://openalex.org/keywords/heat-stable-enterotoxin","display_name":"heat-stable enterotoxin","score":0.8019999861717224},{"id":"https://openalex.org/keywords/chromosome-12","display_name":"chromosome 12","score":0.7519999742507935},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6010000109672546}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6946064233779907},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.49398428201675415},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4813469350337982},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4481765031814575},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4366377592086792},{"id":"https://openalex.org/C2779802037","wikidata":"https://www.wikidata.org/wiki/Q40878","display_name":"Diarrhea","level":2,"score":0.42340564727783203},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.41555628180503845},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.402192622423172},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3945574462413788},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32932645082473755},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24691709876060486},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11434224247932434}],"mesh":[{"descriptor_ui":"D000074261","descriptor_name":"Receptors, Enterotoxin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002908","descriptor_name":"Chronic Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006152","descriptor_name":"Cyclic GMP","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018000","descriptor_name":"Receptors, Peptide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018000","descriptor_name":"Receptors, Peptide","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050705","descriptor_name":"Receptors, Guanylate Cyclase-Coupled","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050705","descriptor_name":"Receptors, Guanylate Cyclase-Coupled","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1056/nejmoa1110132","doi":"https://doi.org/10.1056/nejmoa1110132","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejmoa1110132","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:22436048","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22436048","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":"The New England journal of medicine","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.iisc.ac.in:44448","doi":null,"is_oa":false,"landing_page_url":"http://eprints.iisc.ac.in/44448/1/new_end_jou_med_366-17_1586-1595_2012.pdf","pdf_url":"http://eprints.iisc.ac.in/44448/1/new_end_jou_med_366-17_1586-1595_2012.pdf","source":{"id":"https://openalex.org/S4377196309","display_name":"NOT FOUND REPOSITORY (Indian Institute of Science Bangalore)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I59270414","host_organization_name":"Indian Institute of Science Bangalore","host_organization_lineage":["https://openalex.org/I59270414"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W29738190","https://openalex.org/W1599484575","https://openalex.org/W1965847743","https://openalex.org/W1970477951","https://openalex.org/W1972876743","https://openalex.org/W1973190959","https://openalex.org/W1997901894","https://openalex.org/W2015812563","https://openalex.org/W2017163862","https://openalex.org/W2021319837","https://openalex.org/W2025005589","https://openalex.org/W2040637349","https://openalex.org/W2047842661","https://openalex.org/W2054977175","https://openalex.org/W2057383604","https://openalex.org/W2059619835","https://openalex.org/W2060074148","https://openalex.org/W2061239533","https://openalex.org/W2065337105","https://openalex.org/W2066456267","https://openalex.org/W2074913451","https://openalex.org/W2075301647","https://openalex.org/W2084073847","https://openalex.org/W2087717115","https://openalex.org/W2094130376","https://openalex.org/W2101203073","https://openalex.org/W2106779017","https://openalex.org/W2106992298","https://openalex.org/W2129385409","https://openalex.org/W2133163062","https://openalex.org/W2158375208","https://openalex.org/W2161371761","https://openalex.org/W2163562069","https://openalex.org/W2166386674","https://openalex.org/W4247737284"],"related_works":["https://openalex.org/W2088047091","https://openalex.org/W3157101248","https://openalex.org/W3030520442","https://openalex.org/W2166603581","https://openalex.org/W7161020980","https://openalex.org/W2898248869","https://openalex.org/W4246624942","https://openalex.org/W2055441085","https://openalex.org/W2751990052","https://openalex.org/W7123351714"],"abstract_inverted_index":{"BACKGROUND:":[0],"Familial":[1],"diarrhea":[2,35,213],"disorders":[3],"are,":[4],"in":[5,23,113,146,148,159,164,177,214],"most":[6],"cases,":[7],"severe":[8],"and":[9,44,56,77,153,201,207,227,275,280],"caused":[10],"by":[11,267],"recessive":[12],"mutations.":[13],"We":[14,59,93,127,139],"describe":[15],"the":[16,98,109,125,160,165,170,191,205,211,215,249,255,276],"cause":[17,119,188],"of":[18,26,38,97,132,162,169,181,190,242,248,251,278,283],"a":[19,27,71,141,231],"novel":[20],"dominant":[21],"disease":[22,263],"32":[24],"members":[25,32,152],"Norwegian":[28],"family.":[29],"The":[30],"affected":[31,104,150,216],"have":[33,230],"chronic":[34,212],"that":[36,111],"is":[37,41,45,264],"early":[39],"onset,":[40],"relatively":[42],"mild,":[43],"associated":[46],"with":[47,66],"increased":[48,179,199,236],"susceptibility":[49,123],"to":[50,69,107,122,124,173,198,229,258],"inflammatory":[51],"bowel":[52,225],"disease,":[53],"small-bowel":[54],"obstruction,":[55],"esophagitis.":[57],"METHODS:":[58],"used":[60],"linkage":[61],"analysis,":[62],"based":[63],"on":[64,74],"arrays":[65],"single-nucleotide":[67],"polymorphisms,":[68],"identify":[70],"candidate":[72,100,166],"region":[73,101],"chromosome":[75],"12":[76],"then":[78],"sequenced":[79],"GUCY2C,":[80],"encoding":[81],"guanylate":[82],"cyclase":[83],"C":[84],"(GC-C),":[85],"an":[86],"intestinal":[87],"receptor":[88,172],"for":[89],"bacterial":[90],"heat-stable":[91],"enterotoxins.":[92],"performed":[94],"exome":[95],"sequencing":[96],"entire":[99],"from":[102,204],"three":[103],"family":[105,151,217],"members,":[106],"exclude":[108],"possibility":[110],"mutations":[112],"genes":[114,163],"other":[115,156],"than":[116],"GUCY2C":[117,147],"could":[118],"or":[120,239],"contribute":[121],"disease.":[126],"carried":[128],"out":[129],"functional":[130],"studies":[131],"mutant":[133,171],"GC-C":[134,221],"using":[135],"HEK293T":[136],"cells.":[137],"RESULTS:":[138],"identified":[140],"heterozygous":[142],"missense":[143],"mutation":[144],"(c.2519G\u2192T)":[145],"all":[149],"observed":[154],"no":[155],"rare":[157],"variants":[158,253],"exons":[161],"region.":[167],"Exposure":[168],"its":[174],"ligands":[175],"resulted":[176],"markedly":[178],"production":[180],"cyclic":[182],"guanosine":[183],"monophosphate":[184],"(cGMP).":[185],"This":[186],"may":[187,208],"hyperactivation":[189],"cystic":[192],"fibrosis":[193],"transmembrane":[194],"regulator":[195],"(CFTR),":[196],"leading":[197],"chloride":[200,237],"water":[202],"secretion":[203,238],"enterocytes,":[206],"thus":[209],"explain":[210],"members.":[218],"CONCLUSIONS:":[219],"Increased":[220],"signaling":[222],"disturbs":[223],"normal":[224],"function":[226],"appears":[228],"proinflammatory":[232],"effect,":[233],"either":[234],"through":[235],"additional":[240],"effects":[241],"elevated":[243],"cellular":[244],"cGMP.":[245],"Further":[246],"investigation":[247],"relevance":[250],"genetic":[252],"affecting":[254],"GC-C-CFTR":[256],"pathway":[257],"conditions":[259],"such":[260],"as":[261],"Crohn's":[262],"warranted.":[265],"(Funded":[266],"Helse":[268],"Vest":[269],"[Western":[270],"Norway":[271],"Regional":[272],"Health":[273],"Authority]":[274],"Department":[277],"Science":[279],"Technology,":[281],"Government":[282],"India.).":[284]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":14},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":12},{"year":2021,"cited_by_count":20},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":22},{"year":2017,"cited_by_count":19},{"year":2016,"cited_by_count":22},{"year":2015,"cited_by_count":17},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":14},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}