Document Type
Article
Abstract
Nucleoredoxin (Nxn) encodes a multi-functional enzyme with oxidoreductase activity that regulates many different signaling pathways and cellular processes in a redox-dependent manner. Rare NXN mutations are reported in individuals with recessive Robinow syndrome, which involves mesomelic skeletal dysplasia, short stature, craniofacial dysmorphisms, and incompletely penetrant heart and palate defects. Here we report that Nxn is expressed in the ventral diencephalon and developing pituitary gland, and that Nxn deficient mice have pituitary dysmorphology and craniofacial abnormalities that include defects in the skull base and cleft palate. Nxn mutant mice exhibit reduced WNT signaling and reduced differentiation of pituitary stem cells into hormone-producing cells. These results suggest patients with Robinow syndrome could benefit from evaluation by endocrinologists for pituitary structural imaging and hormone insufficiency.
Digital Object Identifier (DOI)
Publication Info
Published in Human Molecular Genetics, Volume 34, Issue 10, 2025, pages 870-881.
Rights
© The Author(s) 2025. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited
APA Citation
Brinkmeier, M. L., Cheung, L. Y. M., O’Connell, S. P., Gutierrez, D. K., Rhoads, E. C., Camper, S. A., & Davis, S. W. (2025). Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation. Human Molecular Genetics, 34(10), 870–881.https://doi.org/10.1093/hmg/ddaf032