Article
Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.
International journal of molecular sciences - 24 Nov 2021
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
Abstract excerpt
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 (R510stop) that leads to a truncated, nonfunctional TRPV6 channel, and the second in a point mutation (G660R) that, surprisingly, does not affect the Ca2+ permeability of TRPV6. We mimicked the subunit...
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