Article
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.
Hormone research in paediatrics - 1 Jan 2013
Linglart Agnès, Maupetit-Méhouas Stéphanie, Silve Caroline
Abstract excerpt
GNAS (guanine nucleotide-binding protein, α stimulating) is a complex imprinted locus coding, besides the α-stimulatory subunit of the G protein, the paternally (extra-large, antisense and A/B) and maternally (neuroendocrine secretory protein) transcripts. Heterozygous mutations in the coding sequence of GNAS produce dominant phenotypes (combination of resistances to hormones signaling through G-protein-coupled...
Topics
- Alleles
- Chromogranins
- GTP-Binding Protein alpha Subunits, Gs
- Genetic Diseases, Inborn
- Genomic Imprinting
- Humans
- Mutation
- Open Reading Frames
- Syntaxin 16