GNAS

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GNAS

A locus on chromosome 20q13.3 that has a highly complex imprinted expression pattern, giving rise to maternally, paternally and biallelically expressed transcripts derived from four alternative promoters and 5' exons. Some transcripts have a differentially methylated region (DMR) at their 5' exons. This DMR is commonly found in imprinted genes and correlates with transcript expression; one transcript produced from this locus and the antisense transcript are paternally expressed, noncoding RNAs, which may regulate regional imprinting. Alternative splicing of downstream exons results in different forms of the stimulatory G-protein alpha subunit, a key component of the classical signal-transduction pathway linking receptor-ligand interactions to adenylyl cyclase activation and various cellular responses.

Molecular pathology
GNAS mutations have been linked to pseudohypoparathyroidism types 1a and 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone and pituitary tumours.
References in periodicals archive ?
Remove the sticker and press the whole box onto the wall," Aho tells the kids.
Friday's Bar One Racing Irish Sprint Cup semi-finals Heat 1: 1 Flying Champ, 2 Carlows Pride, 3 Aho Tony, 4 Splanc, 5 Glenwood Dream (w), 6 Inny Blue (w).
The performance parts of the project control system specified in the appendix shall be transferred to AHO.
Aho carrying a gun moments before the shot rang out.
CUTLINE: Preparing gift bags at Radius Healthcare Center are, from left, staff member Judith Aho, and residents Gabrielle Julian and Florence Ravenelle.
Die zu vergebenden Leistungen bestehen aus: Projektstufe 1 Projektvorbereitung, Handlungsbereiche A-E in Anlehnung an 2 AHO Heft Nr.
LEOMINSTER - More than two years after allegedly shooting a man in the neck during an attempted robbery, Brandon Aho was in court yesterday to face charges in the case that sent one co-defendant to prison.
Contract notice: Project control services according to 2 aho, project steps 1-5, areas of activity ae, for the new conception of the olympia regatta facility in munich oberschleiheim,
Swanberg) Aho, 71, of Worcester, died Monday, January 1st, 2007.
Swanie" Aho, 71, of Worcester, died Monday, January 1st, 2007.
The services to be awarded consist of: - Project stages 1-2, areas of activity AE in accordance with 2 AHO Book No.