单基因糖尿病(Monogenic diabetes)是由单个基因或染色体位点的一个或多个缺陷引起。该疾病可能在家族内作为显性、隐性或非孟德尔性状遗传,但也可能由于新发突变而自发出现。 单基因糖尿病是一大类少见疾病的组…
Maturity-onset diabetes of the young (MODY) is a genetic form of diabetes with an autosomal dominant pattern of transmission characterized by dysfunction in pancreatic 尾-cells. MODY type 3 (MODY 3) is caused by heterozygous mutations in the hepatocyte nuclear factor 1...
Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. More...
近2年刘丽梅教授和翁建平教授团队分别进行MODY相关研究并发表文章,提示MODY2(GCK)、MODY3(HNF-1α)可能是中国人群最常见的MODY类型,并进行了更深入的工作,其研究为我国人群MODY流行病学提供了一些参考。 其中,2020年8月翁建平教授团队...
Fang C, Huang J, Huang Y, et al. A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population. Diabetes Res Clin Pract 2015; 109:e5-7. Costa A, Bescós M, Velho ...
1、Mody kind of life, feel better?什么样的生活，感觉更好？2、Molecular Scanning on MODY Genes in Chinese Early Onset Familial Type 2 Diabetes 中国人早发2型糖尿病家系中MODY基因缺陷的分子筛查。3、Mody know, because my spring, in the summer.知道么，因为我的春天，在夏天。4、Is it...
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes[J]. Diabetes, 2008,57(4):1131-1135. DOI: 10.2337/db07-1467 . 返回引文位置Google Scholar 百度学术 万方数据 [5] Bonfanti R , Colombo C , Nocerino V ,et al. Insulin gene mutations as cause of ...
糖尿病是一组由环境、遗传因素和健康行为相互作用而产生的复杂的临床综合征,其中遗传因素在糖尿病尤其在2型糖尿病(type 2 diabetes,T2DM)的发病中所起的作用更是日益受到人们的重视。目前认为,T2DM在家族遗传中个体在具有遗传背景的基础上,如再暴露于一个或多个环境危险因素,必将大大增加个体对糖尿病的患病危险性,...
Studies encompassing (1) genetic underpinnings and their types, (2) the significance of its biomarkers, and (3) diagnostic techniques and treatment modalities were focused upon. Results The disease accounts for 1–2% of all cases of diabetes and is usually misdiagnosed as either Type 1 or Type...
Maturity-onset diabetes of the young or MODY is considered by many physicians and researchers to be a subset of Type 2 diabetes (T2D) and is often misdiagnosed as T2D.[1]Some estimates are that over 90% of MODY patients are misdiagnosed as having T2D because many physicians are not aware...