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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.

作者信息

Fajans S S, Bell G I

出版信息

Diabetologia. 2006 May;49(5):1106-8. doi: 10.1007/s00125-006-0158-y. Epub 2006 Feb 25.

DOI:10.1007/s00125-006-0158-y
PMID:16502298
Abstract
摘要

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Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.欧洲大量病例中由肝细胞核因子4α突变引起的青少年发病的成年型糖尿病的分子遗传学和表型特征
Diabetologia. 2005 May;48(5):878-85. doi: 10.1007/s00125-005-1738-y. Epub 2005 Apr 14.
2
Are glucokinase mutations associated with low triglycerides?
Clin Chem. 2005 Apr;51(4):791-3. doi: 10.1373/clinchem.2004.045963.
3
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。
Endocr Rev. 2021 Sep 28;42(5):605-657. doi: 10.1210/endrev/bnab010.
4
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.西西伯利亚地区青少年发病的成年型糖尿病（MODY）相关基因的突变谱
J Pers Med. 2021 Jan 18;11(1):57. doi: 10.3390/jpm11010057.
5
Elevated β-cell stress levels promote severe diabetes development in mice with MODY4.β细胞应激水平升高可促进 MODY4 小鼠发生严重糖尿病。
J Endocrinol. 2020 Feb;244(2):323-337. doi: 10.1530/JOE-19-0208.
6
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.伊朗早发型2型糖尿病和青年发病的成年型糖尿病3发展过程中肝细胞核因子1α变体的遗传学研究
Adv Biomed Res. 2019 Sep 23;8:55. doi: 10.4103/abr.abr_54_19. eCollection 2019.
7
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.年轻的葡萄糖激酶成熟型糖尿病（GCK-MODY）患者的表型异质性
J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):246-252. doi: 10.4274/jcrpe.4461. Epub 2017 Jun 30.
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Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. Epub 2016 Nov 29.
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Diabetes Care. 2011 Aug;34(8):1878-84. doi: 10.2337/dc11-0035.
Hum Mutat. 2003 Nov;22(5):353-62. doi: 10.1002/humu.10277.
4
The genetic abnormality in the beta cell determines the response to an oral glucose load.β细胞中的基因异常决定了对口服葡萄糖负荷的反应。
Diabetologia. 2002 Mar;45(3):427-35. doi: 10.1007/s00125-001-0770-9.
5
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.β细胞基因与糖尿病：转录因子突变的分子与临床特征
Diabetes. 2001 Feb;50 Suppl 1:S94-100. doi: 10.2337/diabetes.50.2007.s94.
6
Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels.肝细胞核因子4α/成年发病型糖尿病1型中的基因型/表型关系：单倍剂量不足与载脂蛋白（AII）、载脂蛋白（CIII）、脂蛋白（a）及甘油三酯水平降低相关。
Diabetes. 2000 May;49(5):832-7. doi: 10.2337/diabetes.49.5.832.
7
Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism.肝细胞核因子-4α基因的突变会影响胰岛素分泌和甘油三酯代谢。
Diabetes. 1999 Feb;48(2):423-5. doi: 10.2337/diabetes.48.2.423.
8
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.一个家族中肝细胞细胞核因子4α/青少年发病的成年型糖尿病1型（MODY1）基因存在无义突变（R154X）时的肝功能情况
J Clin Invest. 1997 Sep 15;100(6):1400-5. doi: 10.1172/JCI119660.
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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.
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Scope and heterogeneous nature of MODY.青少年发病的成年型糖尿病（MODY）的范围及异质性
Diabetes Care. 1990 Jan;13(1):49-64. doi: 10.2337/diacare.13.1.49.