A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms-Reference-Cited by-同舟云学术

A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms

Published:2018-05-22 Issue:5 Volume:19 Page:905-909
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Johnson Stephanie R¹²³^ORCID,McGown Ivan⁴,Oppermann Udo⁵⁶,Conwell Louise S¹²,Harris Mark¹²⁷,Duncan Emma L²³⁸

Affiliation:

1. Department of Endocrinology; Lady Cilento Children's Hospital; South Brisbane QLD Australia

2. Faculty of Medicine; The University of Queensland; Herston QLD Australia

3. Institute of Health and Biomedical Innovation, Faculty of Health; Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital; Woolloongabba QLD Australia

4. Molecular Genetics, Mater Health Services; South Brisbane QLD Australia

5. Structural Genomics Consortium; Botnar Research Center, Oxford Biomedical Research Unit, University of Oxford; Oxford UK

6. Freiburg Institute of Advanced Studies (FRIAS); University of Freiburg; Freiburg Germany

7. University of Queensland Diamantina Institute; The University of Queensland, Translational Research Institute; Woolloongabba QLD Australia

8. Department of Endocrinology; Royal Brisbane & Women's Hospital; Herston QLD Australia

Funder

European Union Seventh Framework Programme

Royal Brisbane and Women's Hospital Foundation

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12679/fullpdf

Reference21 articles.

1. Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes;Shepherd;Diabetes Care,2016

2. Maturity-onset diabetes of the young (MODY): how many cases are we missing?;Shields;Diabetologia,2010

3. Loss-of-function mutations in APPL1 in familial diabetes mellitus;Prudente;Am J Hum Genet,2015

4. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing;Ellard;Diabetologia,2013

5. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model;Gao;BMC Genet,2014

Cited by 18 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. Diabetic Ketoacidosis in Patients with Maturity-Onset Diabetes of the Young;Experimental and Clinical Endocrinology & Diabetes;2024-06-05

2. Diabetische Ketoazidose bei einer Patientin mit HNF4A-MODY;Diabetologie und Stoffwechsel;2024-02-27

3. DNA Origami-Enabled Gene Localization of Repetitive Sequences;Journal of the American Chemical Society;2024-02-23

4. Relationship of MicroRNAs with Transposable Elements in the Type 1 Diabetes Development;The Russian Archives of Internal Medicine;2024-01-12

5. Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity;Reviews in Endocrine and Metabolic Disorders;2023-05-11