{"id":"https://openalex.org/W4386855882","doi":"https://doi.org/10.2337/figshare.24147438","title":"Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations","display_name":"Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations","publication_year":2023,"publication_date":"2023-09-19","ids":{"openalex":"https://openalex.org/W4386855882","doi":"https://doi.org/10.2337/figshare.24147438"},"language":"en","primary_location":{"id":"doi:10.2337/figshare.24147438","doi":"https://doi.org/10.2337/figshare.24147438","is_oa":true,"landing_page_url":"https://doi.org/10.2337/figshare.24147438","pdf_url":null,"source":null,"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Diabetes Association","raw_type":"posted-content"},"volume":null,"type":"other","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.2337/figshare.24147438","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100773998","display_name":"Changhong Li","orcid":"https://orcid.org/0000-0003-0699-8900","observed_orcids":["https://orcid.org/0000-0003-0699-8900","https://orcid.org/0000-0003-0513-1459"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Changhong Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013302947","display_name":"Christine A. Juliana","orcid":"https://orcid.org/0000-0002-4314-1407","observed_orcids":["https://orcid.org/0000-0002-4314-1407"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christine A. Juliana","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087082144","display_name":"Yue Yuan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yue Yuan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ming Li","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ming Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100776083","display_name":"Ming H. Lu","orcid":"https://orcid.org/0000-0002-9962-6358","observed_orcids":["https://orcid.org/0000-0002-9962-6358"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ming Lu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100435226","display_name":"Pan Chen","orcid":"https://orcid.org/0000-0003-0271-2725","observed_orcids":["https://orcid.org/0000-0003-0271-2725","https://orcid.org/0009-0006-0489-6643"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pan Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043632360","display_name":"Kara E. Boodhansingh","orcid":"https://orcid.org/0000-0003-4810-1372","observed_orcids":["https://orcid.org/0000-0003-4810-1372"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kara E. Boodhansingh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033457901","display_name":"Nicolai M. Doliba","orcid":"https://orcid.org/0000-0003-4598-9222","observed_orcids":["https://orcid.org/0000-0003-4598-9222"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nicolai M. Doliba","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064645355","display_name":"Tricia R Bhatti","orcid":"https://orcid.org/0000-0001-6511-3514","observed_orcids":["https://orcid.org/0000-0001-6511-3514"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tricia R. Bhatti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074408723","display_name":"N. Scott Adzick","orcid":"https://orcid.org/0000-0003-2132-8606","observed_orcids":["https://orcid.org/0000-0003-2132-8606"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N. Scott Adzick","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073631988","display_name":"Charles A. Stanley","orcid":"https://orcid.org/0000-0003-4881-9392","observed_orcids":["https://orcid.org/0000-0003-4881-9392"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles A. Stanley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5051617679","display_name":"Diva D. De Le\u00f3n","orcid":"https://orcid.org/0000-0003-1225-8087","observed_orcids":["https://orcid.org/0000-0003-1225-8087"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Diva D. De Le\u00f3n","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10839","display_name":"Pancreatic function and diabetes","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T10839","display_name":"Pancreatic function and diabetes","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11171","display_name":"Diabetes and associated disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-hyperinsulinism","display_name":"congenital hyperinsulinism","score":0.9929999709129333},{"id":"https://openalex.org/keywords/glucokinase","display_name":"glucokinase","score":0.8980000019073486},{"id":"https://openalex.org/keywords/gck-mutations","display_name":"GCK mutations","score":0.8299999833106995},{"id":"https://openalex.org/keywords/activating-mutations","display_name":"activating mutations","score":0.9860000014305115},{"id":"https://openalex.org/keywords/hypoglycemia","display_name":"hypoglycemia","score":0.9139999747276306},{"id":"https://openalex.org/keywords/glucose-stimulated-insulin-secretion","display_name":"glucose-stimulated insulin secretion","score":0.9039999842643738},{"id":"https://openalex.org/keywords/glucagon-secretion","display_name":"glucagon secretion","score":0.8420000076293945},{"id":"https://openalex.org/keywords/glucose-homeostasis","display_name":"glucose homeostasis","score":0.7160000205039978},{"id":"https://openalex.org/keywords/islet-function","display_name":"islet function","score":0.5979999899864197},{"id":"https://openalex.org/keywords/enzyme-kinetics","display_name":"enzyme kinetics","score":0.7269999980926514},{"id":"https://openalex.org/keywords/pancreatectomy","display_name":"pancreatic resection","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C98335778","wikidata":"https://www.wikidata.org/wiki/Q425185","display_name":"Glucokinase","level":3,"score":0.941157877445221},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.823124885559082},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.804222822189331},{"id":"https://openalex.org/C2778563252","wikidata":"https://www.wikidata.org/wiki/Q170617","display_name":"Glucagon","level":3,"score":0.7148191928863525},{"id":"https://openalex.org/C2777643638","wikidata":"https://www.wikidata.org/wiki/Q5160437","display_name":"Congenital hyperinsulinism","level":5,"score":0.6103125810623169},{"id":"https://openalex.org/C2777368190","wikidata":"https://www.wikidata.org/wiki/Q477390","display_name":"Hyperinsulinism","level":4,"score":0.5601471662521362},{"id":"https://openalex.org/C3018667095","wikidata":"https://www.wikidata.org/wiki/Q3455903","display_name":"Glucose homeostasis","level":4,"score":0.5566629767417908},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.5513519644737244},{"id":"https://openalex.org/C2777901630","wikidata":"https://www.wikidata.org/wiki/Q24722849","display_name":"GLUT2","level":4,"score":0.5056102275848389},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4997243881225586},{"id":"https://openalex.org/C2780668416","wikidata":"https://www.wikidata.org/wiki/Q202758","display_name":"Hypoglycemia","level":3,"score":0.46344900131225586},{"id":"https://openalex.org/C165220095","wikidata":"https://www.wikidata.org/wiki/Q207524","display_name":"Islet","level":3,"score":0.4295233190059662},{"id":"https://openalex.org/C161573976","wikidata":"https://www.wikidata.org/wiki/Q420277","display_name":"Glucose transporter","level":3,"score":0.21474817395210266},{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.1758681833744049},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.14880019426345825}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.2337/figshare.24147438","doi":"https://doi.org/10.2337/figshare.24147438","is_oa":true,"landing_page_url":"https://doi.org/10.2337/figshare.24147438","pdf_url":null,"source":null,"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Diabetes Association","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.2337/figshare.24147438","doi":"https://doi.org/10.2337/figshare.24147438","is_oa":true,"landing_page_url":"https://doi.org/10.2337/figshare.24147438","pdf_url":null,"source":null,"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Diabetes Association","raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2944978756","https://openalex.org/W1525740045","https://openalex.org/W2133560510","https://openalex.org/W2593414292","https://openalex.org/W2072016923","https://openalex.org/W4231459773","https://openalex.org/W2101804129","https://openalex.org/W2041423889","https://openalex.org/W7100967969","https://openalex.org/W7098490802"],"abstract_inverted_index":{"The":[0,56],"importance":[1],"of":[2,8,17,34,44,60,73,111,116,161,171,185,189],"glucokinase":[3,26],"(GK)":[4],"in":[5,24,62,88,127,147],"the":[6,15,25,74,114,134,141,168,186],"regulation":[7],"insulin":[9,125,145,190],"secretion":[10,126,146,155],"has":[11],"been":[12],"highlighted":[13],"by":[14,39],"phenotypes":[16],"individuals":[18],"with":[19,119],"activating":[20,42,53],"and":[21,49,71,83,97,133,153],"inactivating":[22],"mutations":[23,43,54,165,173],"gene":[27],"(GCK).":[28],"Here":[29],"we":[30],"report":[31],"10":[32],"cases":[33],"congenital":[35],"hyperinsulinism":[36],"(HI)":[37],"caused":[38],"eight":[40],"unique":[41],"GCK.":[45],"Six":[46],"are":[47],"novel":[48,162],"near":[50],"previously":[51],"identified":[52],"sites.":[55],"first":[57],"recognized":[58],"episode":[59],"hypoglycemia":[61],"these":[63,172],"patients":[64],"occurred":[65],"between":[66],"birth":[67],"to":[68,103,136,182,194],"24":[69],"years":[70],"severity":[72],"phenotype":[75],"was":[76,131,138,151,156],"also":[77,193],"variable.":[78],"Mutant":[79,90],"enzymes":[80,91],"were":[81],"expressed":[82],"purified":[84],"for":[85,143],"enzyme":[86,99],"kinetics":[87],"vitro.":[89],"had":[92],"low":[93],"glucose":[94,175,187],"S0.5":[95],"values":[96],"increased":[98],"activity":[100],"index":[101],"compared":[102],"wild":[104],"type":[105],"GK.":[106],"We":[107],"performed":[108],"functional":[109],"evaluation":[110,160],"islets":[112,130,150],"from":[113],"pancreata":[115],"3":[117],"children":[118],"GCK-HI":[120,129,149],"that":[121,167],"required":[122],"pancreatectomy.":[123],"Basal":[124],"perifused":[128,148],"normal":[132],"response":[135],"glyburide":[137],"preserved.":[139],"However,":[140],"threshold":[142,188],"glucose-stimulated":[144],"decreased":[152,196],"glucagon":[154,198],"greatly":[157],"suppressed.":[158],"Our":[159],"GCK":[163],"disease-associated":[164],"revealed":[166],"detrimental":[169],"effects":[170],"on":[174],"homeostasis":[176],"can":[177],"be":[178],"attributed":[179],"not":[180],"only":[181],"a":[183,195],"lowering":[184],"secretion,":[191],"but":[192],"counter-regulatory":[197],"secretory":[199],"response.":[200]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2023-09-20T00:00:00"}