Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

Lucie CanaffVito GuarnieriYoojung KimBetty Y L WongAlexis Nolin-LapalmeDavid E C ColeSalvatore MinisolaCristina Eller-VainicherFilomena CetaniAndrea RepaciDaniela TurchettiSabrina CorbettaAlfredo ScillitaniDavid Goltzman

Published in: European journal of endocrinology (2022)

We provide evidence that two novel GCM2 R67C inactivating mutations with an inability to bind DNA are causative of hypoparathyroidism. Additionally, we provide evidence that two novel GCM2 variants increased transactivation of the PTH promoter in vitro and are associated with FIHP. Furthermore, our studies suggest that activating GCM2 variants may contribute to facilitating more aggressive parathyroid disease.

Keyphrases

copy number
induced apoptosis
signaling pathway
dna methylation
gene expression
cell cycle arrest
neuropathic pain
single molecule
spinal cord injury
oxidative stress
cell proliferation
cell death
case control
pi k akt