{"id":"https://openalex.org/W4200424312","doi":"https://doi.org/10.3389/fendo.2021.803992","title":"Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees","display_name":"Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees","publication_year":2021,"publication_date":"2021-12-09","ids":{"openalex":"https://openalex.org/W4200424312","doi":"https://doi.org/10.3389/fendo.2021.803992","pmid":"https://pubmed.ncbi.nlm.nih.gov/34956103","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8695754"},"language":"en","primary_location":{"id":"doi:10.3389/fendo.2021.803992","doi":"https://doi.org/10.3389/fendo.2021.803992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2021.803992","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2021.803992/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fendo.2021.803992/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101688949","display_name":"Feng Jiang","orcid":"https://orcid.org/0009-0006-0779-1732","observed_orcids":["https://orcid.org/0009-0006-0779-1732","https://orcid.org/0000-0003-1624-5371"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Feng Jiang","raw_affiliation_strings":["Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100633661","display_name":"Jing Ying Yan","orcid":"https://orcid.org/0000-0001-8265-6270","observed_orcids":["https://orcid.org/0000-0001-8265-6270"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jing Yan","raw_affiliation_strings":["Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100451812","display_name":"Rong Zhang","orcid":"https://orcid.org/0000-0003-1188-0640","observed_orcids":["https://orcid.org/0000-0003-1188-0640"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Rong Zhang","raw_affiliation_strings":["Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079207956","display_name":"Xiaojing Ma","orcid":"https://orcid.org/0000-0003-3043-1840","observed_orcids":["https://orcid.org/0000-0003-3043-1840"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaojing Ma","raw_affiliation_strings":["Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012709162","display_name":"Yuqian Bao","orcid":"https://orcid.org/0000-0002-4754-3470","observed_orcids":["https://orcid.org/0000-0002-4754-3470"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuqian Bao","raw_affiliation_strings":["Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101592068","display_name":"Yujuan Gu","orcid":"https://orcid.org/0000-0001-9315-4436","observed_orcids":["https://orcid.org/0000-0001-9315-4436"]},"institutions":[{"id":"https://openalex.org/I4210086801","display_name":"Affiliated Hospital of Nantong University","ror":"https://ror.org/001rahr89","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086801"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yujuan Gu","raw_affiliation_strings":["Department of Endocrinology, Affiliated Hospital of Nantong University, Jiangsu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Affiliated Hospital of Nantong University, Jiangsu, China","institution_ids":["https://openalex.org/I4210086801"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061706594","display_name":"Cheng Hu","orcid":"https://orcid.org/0000-0003-4314-2386","observed_orcids":["https://orcid.org/0000-0003-4314-2386"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]},{"id":"https://openalex.org/I58200834","display_name":"Southern Medical University","ror":"https://ror.org/01vjw4z39","country_code":"CN","type":"education","lineage":["https://openalex.org/I58200834"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Cheng Hu","raw_affiliation_strings":["Department of Endocrinology, Fengxian Central Hospital Affiliated to Southern Medical University, Shanghai, China","Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Fengxian Central Hospital Affiliated to Southern Medical University, Shanghai, China","institution_ids":["https://openalex.org/I58200834"]},{"raw_affiliation_string":"Department of Endocrinology, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5061706594","https://openalex.org/A5101592068"],"corresponding_institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210086801","https://openalex.org/I4210144482","https://openalex.org/I58200834"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":2950,"currency":"USD","value_usd":2950},"fwci":0.3424,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.53760138,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"12","issue":null,"first_page":"803992","last_page":"803992"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10839","display_name":"Pancreatic function and diabetes","score":0.9740999937057495,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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":0.9740999937057495,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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":0.01759999990463257,"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":0.0024999999441206455,"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/glucokinase","display_name":"glucokinase","score":0.8629999756813049},{"id":"https://openalex.org/keywords/maturity-onset-diabetes-of-the-young","display_name":"maturity-onset diabetes of the young","score":0.8690000176429749},{"id":"https://openalex.org/keywords/mody2","display_name":"MODY2","score":0.8980000019073486},{"id":"https://openalex.org/keywords/heterozygous-missense-mutation","display_name":"heterozygous missense mutation","score":0.8190000057220459},{"id":"https://openalex.org/keywords/hyperglycemia","display_name":"hyperglycemia","score":0.9269999861717224},{"id":"https://openalex.org/keywords/enzyme-kinetic-properties","display_name":"enzyme kinetic properties","score":0.6140000224113464},{"id":"https://openalex.org/keywords/protein-thermostability","display_name":"protein thermal stability","score":0.8769999742507935},{"id":"https://openalex.org/keywords/chinese-pedigree","display_name":"Chinese pedigree","score":0.6650000214576721}],"concepts":[{"id":"https://openalex.org/C98335778","wikidata":"https://www.wikidata.org/wiki/Q425185","display_name":"Glucokinase","level":3,"score":0.9526026248931885},{"id":"https://openalex.org/C2780203522","wikidata":"https://www.wikidata.org/wiki/Q663041","display_name":"Maturity onset diabetes of the young","level":4,"score":0.76930171251297},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7528721690177917},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.7111126184463501},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5746288299560547},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.49682286381721497},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4409655034542084},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4387661814689636},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.41648489236831665},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3991701602935791},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.37103137373924255},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.37060704827308655},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.31690043210983276},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22279807925224304}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005941","descriptor_name":"Glucokinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.3389/fendo.2021.803992","doi":"https://doi.org/10.3389/fendo.2021.803992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2021.803992","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2021.803992/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},{"id":"pmid:34956103","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34956103","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":"Frontiers in endocrinology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8695754","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8695754/","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Endocrinol (Lausanne)","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:95463021ead54755a4e9904c3436fb3b","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/95463021ead54755a4e9904c3436fb3b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Endocrinology, Vol 12 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fendo.2021.803992","doi":"https://doi.org/10.3389/fendo.2021.803992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2021.803992","pdf_url":"https://www.frontiersin.org/articles/10.3389/fendo.2021.803992/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G248717649","display_name":null,"funder_award_id":"31500955","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G3853922363","display_name":null,"funder_award_id":"81800702","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320322999","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4200424312.pdf","grobid_xml":"https://content.openalex.org/works/W4200424312.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1514225178","https://openalex.org/W1808967316","https://openalex.org/W1968478835","https://openalex.org/W1975535652","https://openalex.org/W1976002091","https://openalex.org/W1977920296","https://openalex.org/W1980405692","https://openalex.org/W1985688673","https://openalex.org/W1993849144","https://openalex.org/W1995856733","https://openalex.org/W2004665589","https://openalex.org/W2019311172","https://openalex.org/W2022133196","https://openalex.org/W2022842991","https://openalex.org/W2031199689","https://openalex.org/W2040224852","https://openalex.org/W2049016439","https://openalex.org/W2050455735","https://openalex.org/W2053192349","https://openalex.org/W2059541696","https://openalex.org/W2066536638","https://openalex.org/W2069176063","https://openalex.org/W2073542113","https://openalex.org/W2081934885","https://openalex.org/W2091200441","https://openalex.org/W2102962572","https://openalex.org/W2107950101","https://openalex.org/W2108545227","https://openalex.org/W2112040506","https://openalex.org/W2113745162","https://openalex.org/W2141698109","https://openalex.org/W2153107741","https://openalex.org/W2158116492","https://openalex.org/W2196405360","https://openalex.org/W2276009662","https://openalex.org/W2321268350","https://openalex.org/W2330339020","https://openalex.org/W2402754383","https://openalex.org/W2602158796","https://openalex.org/W2908469469","https://openalex.org/W3027444991","https://openalex.org/W3046525125","https://openalex.org/W4238714725"],"related_works":["https://openalex.org/W2171601278","https://openalex.org/W2059546403","https://openalex.org/W2893244705","https://openalex.org/W2056637421","https://openalex.org/W2908469469","https://openalex.org/W4362549550","https://openalex.org/W1934297796","https://openalex.org/W2011468170","https://openalex.org/W4283752651","https://openalex.org/W4387692345"],"abstract_inverted_index":{"Background":[0],"Glucokinase":[1],"(GCK)":[2],"plays":[3],"a":[4,17,107,120,151],"central":[5],"role":[6],"in":[7,106,119,156],"glucose":[8],"regulation.":[9],"The":[10,111,128,160],"heterozygous":[11],"mutations":[12,63],"of":[13,20,24,38],"GCK":[14,42,69,91,98],"can":[15],"cause":[16],"monogenic":[18],"form":[19],"diabetes,":[21],"maturity-onset":[22],"diabetes":[23,53,105,158],"the":[25,36,39,80,88,135,143,175],"young":[26],"(MODY)":[27],"directly.":[28],"In":[29],"our":[30],"study,":[31],"we":[32],"aimed":[33],"to":[34,45,57,79,86],"explore":[35],"mechanism":[37],"novel":[40,62,95,152],"mutation":[41,97,117,154,169],"p.Ala259Thr":[43,99,155],"leading":[44],"glucokinase":[46],"deficiency":[47],"and":[48,67,76,82,102,123,162,178],"hyperglycemia.":[49],"Methods":[50],"Thirty":[51],"early-onset":[52],"pedigrees":[54],"were":[55,71],"referred":[56],"whole":[58],"exome":[59],"sequencing":[60],"for":[61,126],"identification.":[64],"Purified":[65],"wild-type":[66],"mutant":[68,136],"proteins":[70],"obtained":[72],"from":[73],"E.coli":[74],"systems":[75],"then":[77],"subjected":[78],"kinetic":[81,112,161],"thermal":[83,129,163],"stability":[84,130,164],"analysis":[85,113,131,165],"test":[87],"effects":[89],"on":[90],"activity.":[92],"Results":[93],"One":[94],"missense":[96],"was":[100],"identified":[101,150],"co-segregated":[103],"with":[104],"Chinese":[108,157],"MODY2":[109,153],"pedigree.":[110],"showed":[114],"that":[115,134,167],"this":[116,168],"result":[118],"decreased":[121,140],"affinity":[122],"catalytic":[124],"capability":[125],"glucose.":[127],"also":[132],"indicated":[133],"protein":[137,179],"presented":[138],"dramatically":[139],"activity":[141],"at":[142],"same":[144],"temperature.":[145],"Conclusion":[146],"Our":[147],"study":[148],"firstly":[149],"pedigrees.":[159],"confirmed":[166],"caused":[170],"hyperglycemia":[171],"through":[172],"severely":[173],"damaging":[174],"enzyme":[176],"activities":[177],"stability.":[180]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-12-31T00:00:00"}