Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant

Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant

Recently, we reported a case of an infant with neonatal severe under-mineralizing skeletal dysplasia caused by mutations within both alleles of the <i>TRPV6</i> gene. One mutation results in an in frame stop codon (R<sub>510</sub>stop) that leads to a truncated, nonfunctional...

Full description

Bibliographic Details
Main Authors: Claudia Fecher-Trost, Karin Wolske, Christine Wesely, Heidi Löhr, Daniel S. Klawitter, Petra Weissgerber, Elise Gradhand, Christine P. Burren, Anna E. Mason, Manuel Winter, Ulrich Wissenbach
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
TRPV6
placenta
calcium transport
skeletal dysplasia
serine proteases
subunit assembly
Online Access:https://www.mdpi.com/1422-0067/22/23/12694

Internet

https://www.mdpi.com/1422-0067/22/23/12694

Similar Items