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 TRPV6 gene. One mutation results in an in frame stop codon (R(510)stop) that leads to a truncated, nonfunctional TRPV6 channel, and the second in a poin...

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Detalles Bibliográficos
Autores principales: Fecher-Trost, Claudia, Wolske, Karin, Wesely, Christine, Löhr, Heidi, Klawitter, Daniel S., Weissgerber, Petra, Gradhand, Elise, Burren, Christine P., Mason, Anna E., Winter, Manuel, Wissenbach, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657554/
https://www.ncbi.nlm.nih.gov/pubmed/34884497
http://dx.doi.org/10.3390/ijms222312694

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