Recombinant Human Protein ALEX (GNAS)

1. Activating GNAS (R201C) mutations were found in 2 unrelated patients with virilizing ovarian Leydig cell tumors. This mutation and subsequent cAMP increase may play a significant role in the pathogenesis of virilizing LCT through the stimulation of androgen production and tumor development. PMID: 29056280
2. mutation analysis of GNAS by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of GNAS may be involved in the pathogenesis of polyostotic FD. PMID: 28588314
3. GNAS mutations can be used as good diagnostic tool to distinguish intramuscular / cellular myxoma from low-grade myxofibrosarcoma, especially on biopsy material. PMID: 30111377
4. GNAS T/C 393 frequencies were similar in control and PHPT groups. No association was found between genotypes and clinical expression of PHPT. A nonstatistically significant trend was seen to lower BMD in the lumbar spine, femoral neck, and total hip in both PHPT and control C homozygote subjects. A C allele-related susceptibility to lower BMD in trabecular bone in both groups is not enough to suggest more severity. PMID: 29179855
5. model suggests Cys1004 in AC6 (subunit C2) and Cys174 in Galphas present at the AC-Galphas interface as the possible residues that might undergo reversible nitrosylation. Docking analysis predicted novel ligands of AC6 that include forskolin-based compounds and its derivatives. PMID: 29327289
6. In a cohort of patients with pancreatic cysts, KRAS and GNAS mutations had no significant diagnostic benefit in comparison with conventional testing. PMID: 29796909
7. High GNAS expression is associated with poor prognosis in intrahepatic cholangiocarcinoma. PMID: 29291784
8. we did not observe GNAS or BRAF mutations in urachal adenocarcinomas PMID: 28285720
9. GNAS mutation is a highly specific test for IPMN. When GNAS testing is added to CEA and KRAS, a significantly greater overall accuracy (86.2%) is achieved. PMID: 27514845
10. Our study demonstrates that GNAS mutations are present in a small subset (0.8%) of primary lung carcinomas. PMID: 28776576
11. Mutation in GNAS is associated with Albright Hereditary Osteodystrophy. PMID: 29059381
12. Both tissue blocks examined were positive for a GNAS p.R201H (c.602G>A) mutation (Fig. 3) at an allele frequency of 4.3 and 9.6% PMID: 28258512
13. We now describe a family in which the female proband and her daughter with a maternally inherited 2015-bp deletion that includes GNAS exon 1 PMID: 28711660
14. An association of the GNAS1 T393C polymorphisms with risk of aseptic loosening after total hip arthroplasty is unlikely. PMID: 28830502
15. Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome. PMID: 28334704
16. GNAS mutations contribute significantly to the development of a subset of serrated adenomas and colorectal carcinomas PMID: 28164369
17. GNAS harbors 2 SNPs that were associated with an increased risk for ventricular tachyarrhythmia in implantable cardioverter defibrillator patients, of which 1 was successfully replicated in a community-based population of sudden cardiac death cases. PMID: 27895044
18. RAS and GNAS mutations were associated with worse progression-free survival (PFS) at univariate analysis (P = 0.006 and 0.011, respectively). At multivariate analysis, only KRAS mutations were independently associated with PFS (P = 0.012); GNAS mutations were not-being significantly associated with other poor prognostic features such as incomplete cytoreduction or KRAS mutations PMID: 27502722
19. Ectopic expression of the human gain-of-function mutation GNAS(R201C) in mice supported transplantable HSC activity and improved lymphoid output in secondary recipients. Because declining lymphoid output is a hallmark of aging, GNAS(R201C) mutations may sustain lymphoid-biased HSCs over time and maintain them in a developmental state favorable for transformation. PMID: 28939416
20. This is the first report to show that PLEKHG2 is a novel effector of Galphas, and is negatively regulated by the Galphas subunit through direct interaction. PMID: 28108261
21. The presence of a mutation in GNAS is helpful in identifying a mucin-producing Pancreatic cyst and is found in more than 90% of Intraductal Papillary Mucinous Pancreas Neoplasms . PMID: 28890216
22. pseudomyxoma peritonei patients with GNAS mutations had a significantly shorter median progression-free survival as compared to GNAS wild-type ones. PMID: 27154293
23. GNAS mutation is associated with gastric cancer. PMID: 28160572
24. Mechanical stress affects methylation pattern of GNAS isoforms and osteogenic differentiation of human adipose tissue-derived mesenchymal stem cells. PMID: 28483487
25. patients with Pseudohypoparathyroidism type 1A, parathormone resistance and hypocalcemia develop over time. These findings highlight the importance of screening for maternal GNAS mutations in the presence of ectopic ossifications or family history, even in the absence of parathormone resistance and hypocalcemia. PMID: 28323910
26. Mutation in GNAS gene is associated with Pancreatic Ductal Adenocarcinoma. PMID: 28810144
27. activating mutations in GNAS and Kras cooperatively promote murine pancreatic tumorigenesis PMID: 26257060
28. These results indicate that the ICL2 region of the EP2 receptor is its potential interaction site with Galphas, and that the aromatic side chain moiety at position 143 is a determinant for the accessibility of the ICL2 to the Galphas protein. PMID: 28336329
29. a novel p53/POMC/Galphas/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. PMID: 27885802
30. There was a significant difference in the sensitivity of the assay between decalcified and nondecalcified FDs (31% vs. 70%, P=0.002). LNA-PCR has no added value in enhancing detection sensitivity for GNAS mutations in FD PMID: 26574629
31. Further research exploring possible genetic variants such as the GNAS gene in children and adolescents diagnosed with MCA is warranted PMID: 28216128
32. findings expand the spectrum of genetic mutations that lead to loss-of-methylation at exon A/B alone and thus biallelic expression of the transcript derived from this alternative first GNAS exon PMID: 28084650
33. Mutations in GNAS gene is associated with ductal adenomas. PMID: 27438523
34. Various genetic and epigenetic defects in European pseudohypoparathyroidism patients. PMID: 27428667
35. The molecular analysis of the GNAS gene in PHP and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. PMID: 27871293
36. 12(S)-HETrE, a 12-lipoxygenase oxylipin of dihomo-gamma-linolenic acid, inhibits thrombosis via Galphas signaling in platelets. PMID: 27470510
37. acylation-deacylation cycle is important for the steady-state localization of Galphas at the plasma membrane, but our results do not support a role for deacylation in activity-dependent Galphas internalization. PMID: 27528603
38. GNAS mutations may be involved in the tumorigenesis of potentially malignant lobular endocervical glandular hyperplasia. PMID: 27718288
39. GNAS mutation was not found in any colorectal cancer. PMID: 26350188
40. Results suggest that G protein alpha S subunit (Galphas) plays a tumor-promoting role in renal cell carcinoma (RCC) and possibly acts through a protein kinase A (PKA)-dependent pathway. PMID: 28051330
41. Progressive osseous heteroplasia has been found to be associated with different phenotypes caused by inactivating GNAS mutations, which is why it cannot be categorized as one distinct Mendelian trait PMID: 27058263
42. Data show that G protein (heterotrimeric guanine nucleotide-binding protein)-coupled receptor (GPR37L1) coupled to the G protein Galpha(s) when heterologously expressed in cultured cells. PMID: 27072655
43. Studies indicate that adenylate cyclase-stimulating G alpha protein (GNAS) mutation was identified in two branch-duct gastric-type intraductal papillary mucinous neoplasms of the pancreas (BrD-IPMN). PMID: 27077715
44. Presence of GNAS mutations in aldosterone-producing adenomas, as well as in some cortisol-secreting adenomas. PMID: 26743443
45. The genetic defect(s) leading in Pseudohypoparathyroidism Type Ib to epigenetic GNAS changes and thus PTH-resistance remains unknown, but it seems unlikely that this disease variant is caused by heterozygous inherited or de novo mutations involving GNAS. PMID: 26479409
46. Data show that both mother and child revealed a frameshift that resulted from a heterozygous 2-base pair (bp) deletion at codon 63 (c.188_189delTG) in Gs alpha GTP-binding protein subunits (Gs-alpha) encoded by the GNAS gene. PMID: 26401884
47. DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress PMID: 26333472
48. GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas. PMID: 26248895
49. functional evidence that G-protein coupling to the beta2AR stabilizes a 'closed' receptor conformation characterized by restricted access to and egress from the hormone-binding site PMID: 27362234
50. imprinting of GNAS is the determining factor for the variability of the phenotype. PMID: 23548772

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HGNC: 4392

OMIM: 114500

UniGene: Hs.125898