A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report-Reference-Cited by-同舟云学术

A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report

Published:2021-04-09 Issue:10 Volume:12 Page:1914-1918
ISSN:2040-1116
Container-title:Journal of Diabetes Investigation
language:en
Short-container-title:J Diabetes Investig

Author:

Imaki Sakiho¹,Iizuka Katsumi²^ORCID,Horikawa Yukio²^ORCID,Yasuda Megumi²,Kubota Sodai²³,Kato Takehiro²,Liu Yanyan²,Takao Ken²,Mizuno Masami²,Hirota Takuo²,Suwa Tetsuya²,Hosomichi Kazuyoshi⁴,Tajima Atsushi⁴^ORCID,Fujiwara Yuuka³,Yamazaki Yuji³⁵,Kuwata Hitoshi³⁵,Seino Yutaka³⁵^ORCID,Yabe Daisuke²³⁶^ORCID

Affiliation:

1. Faculty of Medicine Gifu University Gifu Japan

2. Department of Diabetes and Endocrinology Gifu University Graduate School of Medicine Gifu Japan

3. Yutaka Seino Distinguished Center for Diabetes Research Kansai Electric Power Medical Research Institution Kobe Japan

4. Department of Bioinformatics and Genomics Graduate School of Advanced Preventive Medical Sciences Kanazawa University Kanazawa Japan

5. Center for Diabetes, Metabolism and Endocrinology Kansai Electric Power Hospital Osaka Japan

6. Division of Molecular and Metabolic Medicine Department of Physiology and Cell Biology Kobe University Graduate School of Medicine Kobe Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Japan Association for Diabetes Education and Care

Suzuken Memorial Foundation

Publisher

Wiley

Subject

General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdi.13545

Reference8 articles.

1. Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus

2. Rfx6 directs islet formation and insulin production in mice and humans

3. RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

4. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

5. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent;Acta Diabetologica;2024-08-27

2. MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants;International Journal of Molecular Sciences;2024-08-13

3. Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1+/NKX6.1+ progenitors;Diabetologia;2024-07-30

4. RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function;Diabetologia;2024-05-14

5. Deletion of RFX6, a Diabetes-Associated Gene, Impairs iPSC-Derived Islet Organoid Development and Survival, With No Impact on the Generation of PDX1+/NKX6.1+ Progenitors;2024-03-11