Complete loss of PAX4 causes transient neonatal diabetes in humans

Complete loss of PAX4 causes transient neonatal diabetes in humans

Objective: Gene discovery studies in individuals with diabetes diagnosed within 6 months of life (neonatal diabetes, NDM) can provide unique insights into the development and function of human pancreatic beta-cells. Methods: We performed genome sequencing in a cohort of 43 consanguineous individuals...

Full description

Saved in:
Bibliographic Details
Main Authors: James Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, Mahsa Amoli, Nasser Ali Mirhosseini, Tushar Godbole, Matthew B. Johnson, D. Evelyn Ibarra, Han Sun, Nicole A.J. Krentz, Matthew N. Wakeling, Sarah E. Flanagan, Andrew T. Hattersley, Anna L. Gloyn, Elisa De Franco
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Molecular Metabolism
Subjects:
Neonatal diabetes
Monogenic diabetes
PAX4
Pancreatic beta cell development
Online Access:http://www.sciencedirect.com/science/article/pii/S2212877825001085
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S2212877825001085

Similar Items