A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the <i>HNF1B</i> gene-Reference-Cited by-同舟云学术

A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene

Published:2020 Issue:9 Volume:67 Page:981-988
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kuwabara-Ohmura Yayoi¹,Iizuka Katsumi¹,Liu Yanyan¹,Takao Ken¹,Nonomura Kenta¹,Kato Takehiro¹,Mizuno Masami¹,Hosomichi Kazuyoshi²,Tajima Atsushi²,Miyazaki Tatsuhiko³,Horikawa Yukio¹,Yabe Daisuke¹

Affiliation:

1. Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan

2. Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa 920-8640, Japan

3. Pathology Division, Gifu University Hospital, Gifu 501-1194, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/67/9/67_EJ20-0038/_pdf

Reference17 articles.

1. 1 Horikawa Y (2018) Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. J Diabetes Investig 9: 704–712.

2. 2 Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, et al. (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17: 384–385.

3. 3 Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015) HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 11: 102–112.

4. 4 Edghill EL, Bingham C, Ellard S, Hattersley AT (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43: 84–90.

5. 5 Dubois-Laforgue D, Cornu E, Saint-Martin C, Coste J, Bellanné-Chantelot C, et al. (2017) Diabetes, associated clinical spectrum, long-term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care 40: 1436–1443.