• 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

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

作者信息

Gloyn A L, van de Bunt M, Stratton I M, Lonie L, Tucker L, Ellard S, Holman R R

出版信息

Diabetologia. 2009 Jan;52(1):172-4. doi: 10.1007/s00125-008-1188-4. Epub 2008 Nov 11.

DOI:10.1007/s00125-008-1188-4
PMID:19002431
Abstract
摘要

相似文献

1
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.空腹血糖异常筛查人群中GCK基因突变的患病率。
Diabetologia. 2009 Jan;52(1):172-4. doi: 10.1007/s00125-008-1188-4. Epub 2008 Nov 11.
2
[Hyperglycemia caused by mutation of GCK gene in 10 patients analysis of clinical and mutation characteristics].[10例GCK基因变异所致高血糖症患者的临床及变异特征分析]
Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):440-444. doi: 10.3760/cma.j.issn.0578-1310.2019.06.008.
3
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.
4
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.葡萄糖激酶突变伴长期、轻度高血糖患者血管并发症的患病率。
JAMA. 2014 Jan 15;311(3):279-86. doi: 10.1001/jama.2013.283980.
5
Glucokinase gene mutations (MODY 2) in Asian Indians.亚洲印第安人葡萄糖激酶基因突变（MODY2）。
Diabetes Technol Ther. 2014 Mar;16(3):180-5. doi: 10.1089/dia.2013.0244. Epub 2014 Jan 9.
6
Clinical implications of the glucokinase impaired function - GCK MODY today.如今，葡萄糖激酶功能障碍- MODY 的临床意义。
Physiol Res. 2020 Dec 22;69(6):995-1011. doi: 10.33549/physiolres.934487. Epub 2020 Nov 2.
7
The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations.母亲葡萄糖激酶基因突变导致子宫内高血糖对后代的长期影响。
Diabetologia. 2007 Mar;50(3):620-4. doi: 10.1007/s00125-006-0541-8. Epub 2007 Jan 10.
8
Insight into the biochemical characteristics of a novel glucokinase gene mutation.深入了解一种新型葡萄糖激酶基因突变的生化特征。
Hum Genet. 2011 Mar;129(3):231-8. doi: 10.1007/s00439-010-0914-4. Epub 2010 Nov 23.
9
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.鉴定一种新的β细胞葡萄糖激酶（GCK）启动子突变（-71G>C），该突变通过等位基因特异性Sp1结合丧失来调节GCK基因表达，导致人类轻度空腹高血糖。
Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1.
10
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.因杂合子葡萄糖激酶突变导致的高血糖个体的识别与管理。
Diabetes Care. 2015 Jul;38(7):1383-92. doi: 10.2337/dc14-2769.

引用本文的文献

1
Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).在巴西单基因糖尿病研究组（BRASMOD）和巴西 1 型糖尿病研究组（BrazDiab1SG）的 2989 名患者中进行 GCK-MODY 的临床筛查。
Arch Endocrinol Metab. 2024 Jul 30;68:e230314. doi: 10.20945/2359-4292-2023-0314. eCollection 2024.
2
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.51256 例 2 型糖尿病病例和 370487 例对照的罕见变异分析揭示了单基因糖尿病基因的致病性谱。
Nat Genet. 2024 Nov;56(11):2370-2379. doi: 10.1038/s41588-024-01947-9. Epub 2024 Oct 8.
3

本文引用的文献

1
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.青少年成年起病型糖尿病分子遗传学诊断的最佳实践指南。
Diabetologia. 2008 Apr;51(4):546-53. doi: 10.1007/s00125-008-0942-y. Epub 2008 Feb 23.
2
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.儿童和青少年无症状高血糖的病因异质性。
Eur J Pediatr. 2006 Jul;165(7):446-52. doi: 10.1007/s00431-006-0106-3. Epub 2006 Apr 7.
3
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Frequency and spectrum of glucokinase mutations in an adult Maltese population.
马耳他人群中葡萄糖激酶基因突变的频率和谱。
Acta Diabetol. 2022 Mar;59(3):339-348. doi: 10.1007/s00592-021-01814-7. Epub 2021 Oct 22.
4
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.与高胰岛素血症相关的新型 GCK 变异 p.Val455Leu 易受变构激活影响，有利于体重增加和糖尿病的发展。
Diabetologia. 2021 Dec;64(12):2687-2700. doi: 10.1007/s00125-021-05553-w. Epub 2021 Sep 16.
5
Clinical implications of the glucokinase impaired function - GCK MODY today.如今，葡萄糖激酶功能障碍- MODY 的临床意义。
Physiol Res. 2020 Dec 22;69(6):995-1011. doi: 10.33549/physiolres.934487. Epub 2020 Nov 2.
6
Hidden MODY-Looking for a Needle in a Haystack.隐匿性成年发病型糖尿病——大海捞针般寻觅
Front Endocrinol (Lausanne). 2018 Jul 2;9:355. doi: 10.3389/fendo.2018.00355. eCollection 2018.
7
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.基于证据的生物信息学方法的定制，以优化预测葡萄糖激酶中非同义氨基酸取代影响的方法。
Sci Rep. 2017 Aug 25;7(1):9499. doi: 10.1038/s41598-017-09810-0.
8
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.美国单基因糖尿病登记处中的GCK-MODY：常被误诊且接受不必要的治疗。
Acta Diabetol. 2016 Oct;53(5):703-8. doi: 10.1007/s00592-016-0859-8. Epub 2016 Apr 22.
9
Hepatopancreatic intoxication of lambda cyhalothrin insecticide on albino rats.高效氯氟氰菊酯杀虫剂对白化大鼠的肝胰毒性
Int J Clin Exp Med. 2015 May 15;8(5):7297-305. eCollection 2015.
10
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.单基因糖尿病和高胰岛素血症患者的分子遗传学检测
Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20.
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.
4
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.
5
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.意大利儿童中伴有青少年发病的成年型糖尿病的葡萄糖激酶突变患病率高。对糖耐量、早期胰岛素反应、胰岛素敏感性和体重指数的影响。
Diabetologia. 2001 Jul;44(7):898-905. doi: 10.1007/s001250100530.
6
The Fasting Hyperglycaemia Study: III. Randomized controlled trial of sulfonylurea therapy in subjects with increased but not diabetic fasting plasma glucose.空腹高血糖研究：III. 磺脲类药物治疗空腹血糖升高但未患糖尿病受试者的随机对照试验
Metabolism. 1997 Dec;46(12 Suppl 1):56-60. doi: 10.1016/s0026-0495(97)90319-x.
7
Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man.稳态模型评估：基于人体空腹血糖和胰岛素浓度的胰岛素抵抗及β细胞功能
Diabetologia. 1985 Jul;28(7):412-9. doi: 10.1007/BF00280883.