Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
DC Field | Value | Language |
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dc.contributor.author | Cho, Eun-Hee | - |
dc.contributor.author | Min, Jae Woong | - |
dc.contributor.author | Choi, Sun Shim | - |
dc.contributor.author | Choi, Hoon Sung | - |
dc.contributor.author | Kim, Sang-Wook | - |
dc.date.accessioned | 2024-07-02T01:01:42Z | - |
dc.date.available | 2024-07-02T01:01:42Z | - |
dc.date.issued | 2017-06 | - |
dc.identifier.issn | 2093-596X | - |
dc.identifier.issn | 2093-5978 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74486 | - |
dc.description.abstract | Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p. Leu30Pro and p. Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease. | - |
dc.format.extent | 6 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | KOREAN ENDOCRINE SOC | - |
dc.title | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing | - |
dc.type | Article | - |
dc.identifier.doi | 10.3803/EnM.2017.32.2.296 | - |
dc.identifier.bibliographicCitation | ENDOCRINOLOGY AND METABOLISM, v.32, no.2, pp 296 - 301 | - |
dc.identifier.kciid | ART002231226 | - |
dc.description.isOpenAccess | Y | - |
dc.identifier.wosid | 000407811300019 | - |
dc.identifier.scopusid | 2-s2.0-85023174402 | - |
dc.citation.endPage | 301 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 296 | - |
dc.citation.title | ENDOCRINOLOGY AND METABOLISM | - |
dc.citation.volume | 32 | - |
dc.type.docType | Article | - |
dc.publisher.location | 대한민국 | - |
dc.subject.keywordAuthor | Glucokinase | - |
dc.subject.keywordAuthor | Maturity-onset diabetes of the young | - |
dc.subject.keywordAuthor | Computational biology | - |
dc.subject.keywordPlus | CLINICAL CHARACTERISTICS | - |
dc.subject.keywordPlus | MODY | - |
dc.subject.keywordPlus | HYPERGLYCEMIA | - |
dc.subject.keywordPlus | GENE | - |
dc.subject.keywordPlus | FAMILIES | - |
dc.relation.journalResearchArea | Endocrinology & Metabolism | - |
dc.relation.journalWebOfScienceCategory | Endocrinology & Metabolism | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | esci | - |
dc.description.journalRegisteredClass | kci | - |
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