... on the existence of additional clinical features, such as resistance to other hormones and Albright’s hereditary osteodystrophy, and underlying molecular defects. Genetic mutations responsible for the different subtypes of PHP type I involve the GNAS complex locus, an imprinted gene encoding the α-subunit...

... (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics 1991;10:257-261 16. Levine MA, Modi WS, O'Brien SJ: Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2...

... of GNAS , PRKAR1A , PDE4D , and PDE3A . Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. The new term “inactivating PTH/PTHrP signaling disorder...

..., Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Juppner H, Hiort O, Castano L, Bastepe M: Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007;92:2370-2373. 13. Elli FM, de Sanctis L...

... in premature sexual development. In the last two decades, it has been well established that autonomous gonadal activation can be caused by somatic (GNAS) or germline (LHCGR)- activating mutations of genes that encode essential elements for signal transduction of G protein-coupled receptors, resulting...

... ( VHL ) gene. SPNs have a single mutation in CTNBB1 . KRAS and RNF43 mutations occur in both IPMN and MCN. GNAS mutations are only encountered in IPMN [ 17 , 18 ]. These mutations are found in PCF, and KRAS and GNAS mutations in PCF classify a cyst as a neoplastic mucinous cyst [ 18...

... antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 2004;89:548-556. 26. Linglart A, Maupetit-Mehouas S, Silve C: GNAS-related loss-of-function disorders and the role of imprinting. Horm Res Paediatr 2013;79:119-129. 27. Weinstein LS...

..., there is blunting of both cyclic AMP generation and urinary phosphate excretion; alternatively, in PHP Type II, there is only impaired urinary phosphate excretion. All of the PHP Type I subtypes have been linked to a genetic or epigenetic defect in the GNAS gene on chromosome 20. This is an example of a gene...

... (Gsα), encoded by a complex gene called GNAS (reviewed in [ 48 ]. GNAS is an imprinted locus encoding for several transcripts that includes both Gsα and the extra-large α subunit (XLαs) that, similarly Gsα, stimulates generation of cyclic AMP, although evidence suggests that XLαs and Gsα may...

... the filter at a high pressure, resulting in flow of plasma from the hollow fibers into the interstitial space between the fibers. Within this interstitial space is bound galanthus nivalis agglutinin (GNA), a mannose-binding lectin (MBL), which binds a wide variety of viral pathogens including hepatitis C...

...-Albright Syndrome McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, cutaneous hyperpigmentation and endocrine hyperactivity including precocious puberty, Cushing's syndrome, thyrotoxicosis and gigantism. It is caused by mosaicism for a mutation in the GNAS (guanine...

..., Yamamoto M, Shibata N, Shimizu K, Kamatani N, Shiratori K: Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci Rep 2011;1:161. 18. Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, Eshleman JR, Goggins M, Canto MI, Schulick RD, Edil...