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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 296 - 301 (6page)
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초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Froguel P / 1992 / Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus / Nature 356:162~164
Chakera AJ / 2015 / Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation / Diabetes Care 38:1383~1392
Hwang JS / 2006 / Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients / Diabetes Res Clin Pract 74:75~81
김성훈 / 2015 / Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know? / Diabetes and Metabolism Journal 39(6):468~477
Bamshad MJ / 2011 / Exome sequencing as a tool for Mendelian disease gene discovery / Nat Rev Genet 12:745~755
Chakera AJ / 2015 / Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation / Diabetes Care 38:1383~1392
Hwang JS / 2006 / Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients / Diabetes Res Clin Pract 74:75~81
김성훈 / 2015 / Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know? / Diabetes and Metabolism Journal 39(6):468~477
Bamshad MJ / 2011 / Exome sequencing as a tool for Mendelian disease gene discovery / Nat Rev Genet 12:745~755
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