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 ?
AHO"), losses incurred by AHO and reduced placements of collection agency accounts, United Medicorp, Inc.
A layup by the 6-foot-3 Holt, followed by a short pop from Aho, a 3-pointer by Murray, a putback by Aho and a free throw by Charlonne boosted the Mountaineers' advantage to 42-20 with 4:23 left in the third period.
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AHO provides a broad range of behavioral health services.
WEBSTER - Harrington HealthCare Occupational Therapist Audrey Aho of Oxford has completed 130 hours of training and an 11-day course to become a Certified Lymphedema Therapist.
THE Marie Gilbert-trained Aho Tony was the outstanding star in the first round of the Bar One Racing Irish Sprint Cup at Dundalk on Friday.
Aho, acting general manager of the Suburban Mobility Authority for Regional Transportation (SMART), announced his resignation today during testimony before the Michigan House of Representatives Standing Committee on Transportation concerning the shutdown of all SMART linehaul bus services on March 27, 1992.
Announcement of competition: New web solution for AHO
TRAINER Marie Gilbert, successful last year with Miss Lee, did the double when hot favourite Aho Tony gained a narrow victory in the final of the Champions Restaurant Junior Cup at Dundalk on Friday.
STURBRIDGE Anne Marie Margaret (Normandin) Aho, 70, of 63 Beach Avenue, passed peacefully and painlessly into Heaven, where she was greeted, undoubtedly, by Saint Anthony, on Sunday, November 30.
Project management services for the performance image project management of AHO (pursuant to A* 205 of the performance and fee structure project management in the construction and real estate, AHO-Series, No.