• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Identification of two new mutations in the glucokinase gene that result in maturity-onset diabetes of the young.

作者信息

Marks Seth D, Couch Robert M

出版信息

Diabetes Care. 2010 Jul;33(7):e94. doi: 10.2337/dc10-0685.

DOI:10.2337/dc10-0685
PMID:20587714
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6898949/
Abstract
摘要

相似文献

1
Identification of two new mutations in the glucokinase gene that result in maturity-onset diabetes of the young.葡萄糖激酶基因中两个新突变的鉴定,这两个突变导致青年发病的成年型糖尿病。
Diabetes Care. 2010 Jul;33(7):e94. doi: 10.2337/dc10-0685.
2
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.因葡萄糖激酶突变导致的家族性高血糖症。一种糖尿病亚型的定义。
N Engl J Med. 1993 Mar 11;328(10):697-702. doi: 10.1056/NEJM199303113281005.
3
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.14种新的葡萄糖激酶突变的鉴定及42个青少年发病的成年型糖尿病2型(MODY-2)家系的临床特征描述。
Diabetologia. 1997 Feb;40(2):217-24. doi: 10.1007/s001250050666.
4
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.从西班牙青年发病型成年糖尿病(MODY2)患者中分离出的新型葡萄糖激酶突变的生化特征
J Hum Genet. 2008;53(5):460-466. doi: 10.1007/s10038-008-0271-5. Epub 2008 Mar 6.
5
Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.在对32个巴西家族进行葡萄糖激酶(GCK)和肝细胞核因子1α(HNF1A)-成年发病型糖尿病(MODY)筛查时检测到3个未报道的葡萄糖激酶(GCK)错义突变。
Diabetes Res Clin Pract. 2014 Nov;106(2):e44-8. doi: 10.1016/j.diabres.2014.08.006. Epub 2014 Aug 12.
6
Glucokinase mutations in young children with hyperglycemia.高血糖症幼儿中的葡萄糖激酶突变
Diabetes Metab Res Rev. 2006 Sep-Oct;22(5):348-55. doi: 10.1002/dmrr.622.
7
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.高血糖和低血糖中的葡萄糖激酶(GCK)突变:青少年发病的成年型糖尿病、永久性新生儿糖尿病和婴儿高胰岛素血症。
Hum Mutat. 2003 Nov;22(5):353-62. doi: 10.1002/humu.10277.
8
A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.
Diabetes Metab. 2015 Sep;41(4):342-343. doi: 10.1016/j.diabet.2015.03.009. Epub 2015 Apr 25.
9
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
Acta Paediatr. 1998 Aug;87(8):853-6. doi: 10.1080/080352598750013626.
10
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Clin Genet. 2006 Oct;70(4):355-9. doi: 10.1111/j.1399-0004.2006.00686.x.

引用本文的文献

1
Integration of genome-wide computation DRE search, AhR ChIP-chip and gene expression analyses of TCDD-elicited responses in the mouse liver.全基因组计算 DRE 搜索、AhR ChIP-chip 以及 TCDD 诱导的小鼠肝脏应答的基因表达分析的整合。
BMC Genomics. 2011 Jul 15;12:365. doi: 10.1186/1471-2164-12-365.

本文引用的文献

1
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.葡萄糖激酶(GCK)基因突变的最新研究进展,这些突变可导致青年发病的成年型糖尿病、新生儿糖尿病和高胰岛素血症性低血糖。
Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110.
2
Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics.胰腺β细胞葡萄糖激酶的调节:从基础到治疗
Diabetes. 2002 Dec;51 Suppl 3:S394-404. doi: 10.2337/diabetes.51.2007.s394.
3
Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase.利用Cre重组酶通过肝脏和胰腺β细胞特异性基因敲除确定葡萄糖激酶在葡萄糖稳态中的双重作用。
J Biol Chem. 1999 Jan 1;274(1):305-15. doi: 10.1074/jbc.274.1.305.
4
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.因葡萄糖激酶突变导致的家族性高血糖症。一种糖尿病亚型的定义。
N Engl J Med. 1993 Mar 11;328(10):697-702. doi: 10.1056/NEJM199303113281005.
5
Lilly Lecture 1994. The beta-cell in diabetes: from molecular genetics to clinical research.1994年礼来讲座。糖尿病中的β细胞:从分子遗传学到临床研究。
Diabetes. 1995 Jun;44(6):705-17. doi: 10.2337/diab.44.6.705.