[1]范馨月,张萍,张霞.PDX1基因突变所致MODY4的1例病例报告及文献复习[J].国际内分泌代谢杂志,2020,40(05):355-356,360.[doi:10.3760/cma.j.cn121383-20191223-12068]
 Fan Xinyue,Zhang Ping,Zhang Xia.MODY4 with the mutation of PDX1:a case report and literatures review[J].International Journal of Endocrinology and Metabolism,2020,40(05):355-356,360.[doi:10.3760/cma.j.cn121383-20191223-12068]
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PDX1基因突变所致MODY4的1例病例报告及文献复习()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
40
期数:
2020年05期
页码:
355-356,360
栏目:
病例报告
出版日期:
2020-09-20

文章信息/Info

Title:
MODY4 with the mutation of PDX1:a case report and literatures review
作者:
范馨月张萍张霞
大连医科大学附属第二医院内分泌科 116000
Author(s):
Fan Xinyue Zhang Ping Zhang Xia
Department of Endocrinology, The Second Hospital of Dalian Medical University, Dalian 116000, China
DOI:
10.3760/cma.j.cn121383-20191223-12068
文献标志码:
A

参考文献/References:

[1] 陈家伦.上海:临床内分泌学[M].上海:上海科学技术出版社,2009.
[2] Heuvel-Borsboom H, de Valk HW, Losekoot M, et al. Maturity onset diabetes of the young:seek and you will find[J].Neth J Med,2016,74(5):193-200.
[3] Weintrob N,Stern E,Klipper-Aurbach Y, et al. Childhood obesity complicating the differential diagnosis of maturity-onset diabetes of the young and type 2 diabetes[J].Pediatr Diabetes,2008,9(1):60-64.DOI:10.1111/j.1399-5448.2007.00259.x.
[4] Wang X,Sterr M,Burtscher I,et al. Genome-wide analysis of PDX1 target genes in human pancreatic progenitors[J].Mol Metab, 2018, 9: 57- 68.DOI:10.1016/j.molmet.2018.01.011.
[5] Jonsson J, Carlsson L, Edlund T, et al. Insulin-promoter-factor 1 is required for pancreas development in mice[J].Nature,1994,371(6498):606- 609.DOI:10.1038/371606a0.
[6] Brissova M,Shiota M,Nicholson Wendell E,et al. Reduction in pancreatic transcription factor PDX-1 impairs glucose-stimulated insulin secretion [J].J Biol Chem, 2002, 277(13):11225-11232.DOI:10.1074/jbc.M111272200.
[7] Holland AM, Hale MA, Kagami H,et al. Experimental control of pancreatic development and maintenance[J].Proc Natl Acad Sci U S A,2002,99 (19):12236-12241.DOI:10.1073/pnas.192255099.
[8] Caetano LA, Santana LS, Costa-Riquetto AD, et al. PDX1-MODY and dorsal pancreatic agenesis:new phenotype of a rare disease[J].Clin Genet,2018,93 (2):382-386.DOI:10.1111/cge.13044.
[9] Deng M, Xiao X, Zhou L, et al. First case report of maturity-onset diabetes of the young type 4 pedigree in a Chinese family[J].Front Endocrinol (Lausanne), 2019,10:406.DOI:10.3389/fendo.2019.00406.
[10] Pihoker C, Gilliam LK, Ellard S, et al. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase:results from the SEARCH for diabetes in youth[J].J Clin Endocrinol Metab,2013,98(10):4055- 4062.DOI:10.1210/jc.2013-1279.

备注/Memo

备注/Memo:
通信作者:张萍,Email:zping717@medmail.com.cn
更新日期/Last Update: 2020-09-20