Property Summary

NCBI Gene PubMed Count 402
PubMed Score 1308.32
PubTator Score 1344.65

Knowledge Summary

Patent

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  Disease (7)

Disease Target Count Z-score Confidence
Kidney disease 397 0.0 2.0
Disease Target Count Z-score Confidence
Cancer 2346 3.949 2.0
Cushing's syndrome 47 3.583 1.8
Obesity 616 3.466 1.7

Gene RIF (316)

PMID Text
27362234 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
26701869 Known activating mutations in GNAS were detected in five cases (16.1%) of GH-secreting pituitary adenomas.
26333472 DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress
26248895 GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas.
26160192 Report a mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.
25997889 paternal duplication of the chromosomal region comprising the GNAS locus appears to be a fairly common cause of sporadic Pseudohypoparathyroidism type Ib that is likely to occur with equal frequency in Caucasians and Asians.
25952723 Progressive osseous heteroplasia is caused by a heterozygous GNAS inactivating mutation and has been associated with paternal inheritance--{REVIEW}
25894639 GNAS-based mutations are associated with Progressive osseous heteroplasia with Albright hereditary osteodystrophy.
25882888 he GNAS locus on chromosome 20q13.3 gives rise to several, alternatively spliced transcripts, including the alphasubunit of the stimulatory G protein
25867268 Study demonstrated the presence of recurrent GNAS and KRAS mutations in gastric foveolar metaplasia and gastric heterotopia lesions in the duodenum.
25851935 Mutations of GNAS that cause constitutive Gsalpha signaling are found in patients with McCune-Albright syndrome, fibrous dysplasia of bone, and different endocrine and non-endocrine tumors.
25840541 Colloid carcinoma associated with intraductal papillary mucinous neoplasms and its intestinal-type preinvasive precursor are associated with high frequencies of GNAS mutations.
25807286 An intronic variant in GNAS is associated with increased thyroid-stimulating hormone levels when maternally inherited.
25802348 Sequencing, methylation analysis, and large deletion research were performed in GNAS. No genetic mutations were found. Methylation analysis revealed a broad epigenetic defect without deletion in GNAS consistent with sporadic PHP1B.
25796395 mucinous carcinomas with or without associated intraductal papillary mucinous (IPMN) component, as well as IPMNs frequently harbour a GNAS mutation
25740075 GNAS mutation affecting codon 201 is rare in most human tumors.
25710380 Novel duplications in the GNAS region were identified in two patients with pseudohypoparathyroidism type Ib.
25603460 Loss of methylation at GNAS exon A/B due to maternal STX16 deletions and the resulting biallelic A/B expression are associated with enhanced fetal growth.
25594858 Deletions at GNAS locus represent a significant cause of pseudohypoparathyroidism(PPHP/PHP1A) and that such defects are mostly associated with Alu-mediated recombination events.
25558679 Clinical manifestations of hypertension do not depend on polymorphism T393C of GNAS1 gene.
25530484 assessment of clonality using GNAS mutational status in multisegmental main duct intraductal papillary mucinous neoplasms of the pancreas
25487351 These data demonstrate that effects of Gsalpha mutations underpinning FD-defining tissue changes and morbidity do not reflect the effects of the mutations on osteoblasts proper.
25479586 Pancreatic ductal adenocarcinoma frequently develops in the pancreas with gastric type intraductal papillary mucinous neoplasm without GNAS mutations.
25288233 These results suggest that GNAS mutation might occur in a small subset of gastric adenocarcinoma of the fundic gland type as an alternative mechanism of activating the Wnt/beta-catenin signaling pathway.
25269528 Results show that maternal gestational diabetes (GDM)-induced hypermethylation at GNAS and this condition may be among the mechanisms associating maternal GDM with increased risk of metabolic diseases in later life of offspring.
25241742 The study explores methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives.
25219572 The review discuss different mutations in GNAS associated with either Pseudohypoparathyroidism type 1a, Albright's hereditary osteodystrophy, progressive osseous heteroplasia or pseudopseudohypoparathyroidism following maternal or paternal imprinting.
25150496 gain- and loss-of-function studies identify a previously unrecognized tumor suppressor function for Galphas that can be found consistently across Shh-group medulloblastomas of disparate cellular and anatomical origins
25007176 The study confirms the presence of GNAS1 mutations in colon tumors with villous differentiation.
25005734 we detected maternally inherited deletions of 40 and 33 bp within the NESP55 gene in pseudohypoparathyroidism type 1b
24986238 Homozygous GNAS 393C-allele carriers with locally advanced esophageal cancer fail to benefit from platinum-based preoperative chemoradiotherapy.
24982418 Galphas-R265H has dramatically impaired nucleotide affinity leading to the loss-of-function in Albright's Hereditary Osteodystrophy
24938521 GNAS mutation is associated with pancreatic mucinous cysts.
24925222 GNAS mutations are frequently identified in both low-grade and high-grade disseminated appendiceal mucinous neoplasms indicating that GNAS mutation status cannot be used to distinguish between low-grade from high-grade appendiceal mucinous neoplasms.
24898823 GNAS-activating mutations are reported in intraductal papillary mucinous neoplasms (IPMNs) and in McCune-Albright syndrome.
24897499 The GNAS mutation was specifically found in the cases with IPMN and it was speculated that some PDACs might be influenced by the concomitant but separately-located IPMN in their pathogenic mechanism.
24878042 Pseudohypoparathyroidism Ic is a heterogeneous entity caused in part by impaired Gsalpha function, not only due to mutations, but also due to abnormal imprinting of GNAS.
24850831 A yeast mutagenesis system successfully identified three completely different amino acid substitutions that are each able to suppress the constitutive activity of the disease-associated R201H mutation in Gs.
24795070 applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in myelodysplastic syndromes cases with and without del(20q) at karyotype
24789540 germline polymorphisms of G alpha-s do not confer susceptibility for the development of autonomously functioning thyroid nodules.
24758907 No significant associations were found among GNAS1 T393C polymorphism and therapeutic efficacy of tyrosine kinase inhibitor in advanced non-small cell lung cancer with unknown EGFR mutation.
24755784 GNAS haplotypes independently associate with an increased risk of death after primary coronary artery bypass graft surgery.
24741584 Galphas down-expression is associated with adverse pathologic features and clinical PSA biochemical recurrence of prostate cancer.
24525511 Series of parosteal osteosarcomas harboring activating GNAS mutations.
24525507 The presence of GNAS 201 mutations in incipient intraductal papillary mucinous neoplasms suggests that a fraction of these cysts are in fact small IPMNs.
24498230 GNAS mutant colon tumors commonly have synchronous mutations in KRAS.
24470207 GNAS-mutated villous adenomas may not necessarily be direct precursors of associated adenocarcinomas. At the same time, our observations support the role of activating GNAS mutations in increased mucin production in colorectal neoplasms.
24423294 Quantified GNAS methylation alterations by both PCR-pyrosequencing and methylation specific-multiplex ligation-dependent probe amplification assay in genomic DNA from 63 patients with PHP-I correlate with clinical characterisitics.
24312577 GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct
24268734 GNAS1 mutation analysis has diagnostic value in screening patients with intramuscular myxoma and patients with fibrous dysplasia
24145653 Demonstrate the presence of activating GNAS mutations in lobular endocervical glandular hyperplasias and a minor subset of endocervical-type mucinous adenocarcinomas.
24107509 The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene. [review]
24076664 In progressive osseous heteroplasia, a disease caused by null mutations in GNAS, which encodes Galphas, Hedgehog signaling is upregulated in ectopic osteoblasts and progenitor cells.
24061513 GNAS-mutated intraductal papillary neoplasms of the bile duct was highly significantly associated with certain pathologic characteristics, including macroscopic and microscopic mucin hypersecretion and villous architecture
23962387 These results demonstrate that population specific polymorphisms that exist in GNAS gene may alter the risk of occurrence of malaria.
23884777 These data indicate that a paternally derived GNAS transcript, possibly XLalphas, is required for normal fetal growth and development and that this transcript affects placental functions.
23859711 HSD3B1 T-->C Leu338, HTR2A T102C, GNAS T393C, and RGS2 G638A polymorphisms were not associated with hypertension risk.
23846778 Activating GNAS mutations are associated with intraductal papillary mucinous neoplasm of the pancreas.
23844573 preeclampsia induced a decrease in methylation level at IGF 2 DMR
23796510 report of genetic and epigenetic analyses of GNAS locus in 10 patients affected with progressive osseous heteroplasia (POH) or primary osteoma cutis; results support view that POH belongs to a continuum spectrum of heterotopic ossification disorders associated with inactivating GNAS mutations and expand the spectrum of genetic defects associated with this disease
23752180 Our data indicate that amplification of the GNAS locus may contribute to the pathogenesis of breast cancer
23548772 imprinting of GNAS is the determining factor for the variability of the phenotype.
23533243 genetic association studies in a population in Spain: Data suggest that mutations/deletions in GNAS are associated with pseudohypoparathyroidism (PHP) with sever symptoms; subjects with loss of DNA methylation in GNAS locus have mild symptoms of PHP.
23532108 No GNAS mutations in PDACs concomitant with IPMNs were observed. Mutation of GNAS (R201H) was detected in 1 case of intestinal-type IPMN (case 18) whereas mutations within codon 201 of GNAS was absent in gastric-type IPMNs.
23503642 our findings indicate that mutational analysis of GNAS gene is a reliable adjunct to differentiate ossifying fibroma and fibrous dysplasia of the jaws.
23498145 The current study demonstrates that the presence of GNAS in combination with KRAS in pancreatic cystic fluid obtained by EUSFNA improves the sensitivity for diagnosis of intraductal papillary mucinous neoplasms
23412865 We report a not previously described GNAS mutation associated with an atypical early-onset primary hypothyroidism.
23403822 activating GNAS mutations are a frequent and characteristic genetic abnormality of low-grade appendiceal mucinous neoplasms (LAMN); mutant GNAS might play a direct role in the prominent mucin production that is a hallmark of LAMN
23370769 GNAS mutation was thus specific to fibrous dysplasia in the context of fibro-osseous lesions
23346880 Activating somatic mutations of the Gsalpha gene in thyroid toxic adenomas may be identified in childhood but are rarer than in adult population.
23337932 GNAS mutation is not involved in gastrointestinal tumor formation in Peutz-Jeghers syndrome.
23335286 GNAS mutations were not identified in any of the ICCs or other lesions examined
23288949 study investigated the ability of two previously undescribed mutations in Gsalpha to suppress the constitutive activity of a mutation (R201H) associated with McCune-Albright syndrome
23288882 GNAS complex locus mutation is not associated with clinical characteristics of patients with somatotroph adenomas.
23284784 Heterozygous loss of function mutations of GNAS is associated with osseous heteroplasia.
23281139 Our results provide an estimate of the prevalence and the distribution of all GNAS mutations detected so far in PHP-PPHP patients and highlight both genetic and phenotypic heterogeneity among and within families.
23208952 Activating GNAS mutations are often associated with KRAS mutations as a characteristic genetic feature of pyloric gland adenomas (PGAs) of the stomach and duodenum.
23201296 GNAS C-allele carriers had a higher recurrence rate (p=0.018) and a shorter disease-free survival compared to homozygous T-allele carriers (12.26 months vs. 44.65 months, p=0.009)
23095209 A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have a methylation defect at exon A/B of GNAS and a microdeletion involving exons 4-6 of the GNAS neighboring gene STX16 (syntaxin 16). [CASE REPORT]
23065660 Functional GNAS -1121 G/A polymorphism is associated with diastolic function at baseline and in response to exercise training in heart failure patients.
23034519 Results show that HIST1H3C and GNAS methylation was associated with overall and/or event-free survival.
22954004 GNAS codon 201 mutations are uncommon in intraductal papillary neoplasms of the bile duct.
22931242 Our results suggest that a T393C SNP in GNAS1 could be considered a genetic marker implicated in the pathogenesis of renal cell carcinoma in a Norht Indian population.
22875848 data indicate Galphas proteins are a proteasomal substrate in the myometrium and liable to be degraded via the ubiquitin/proteasome pathway; consequently proteasomal activity would also appear to be involved in regulating myometrial Galphas protein expression during pregnancy and parturition
22859495 detection of GNAS mutations in duodenal collections of pancreatic juice is a highly specific indicator of pancreatic cysts
22833384 GNAS1 short-interfering RNA supports bone regeneration in vivo and bone phenotype in cultured mesenchymal stem cells.
22679513 Data report methylation defects including GNAS in patients with an AHO-like phenotype without endocrinological abnormalities.
22593505 The development of odontogenic myxoma is independent of mutations of GNAS1.
22564667 Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.
22511293 patients with paternally inherited inactivating mutations of GNAS are uniformly lean.
22495359 Six PETs exhibited moderate-to-strong positivity for CDX2 with nuclear staining in 5% to 40% of tumor cells, and 5 showed a varying degree of positivity for NESP55
22492776 Trans-acting gene regulating the establishment or maintenance of imprinting at GNAS locus, if it exists, should be specific to pseudohypoparathyroidism cases caused by epigenetic defects at GNAS.
22378814 This new deletion suggests that NESP55 is an additional imprinting control region that directs A/B methylation in humans.
22374786 The presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma.
22371153 study suggests that the TT genotype of the GNAS1 T393C polymorphism could be an independent prognostic marker to predict chemotherapy sensitivity
22367301 Sequencing of 8 digital fibromyxomas failed to reveal mutations in exon 8 or 9 of GNAS1, in contrast to intramuscular or cellular myxoma.
22355676 analyzed GNAS mutations in archival cases of 118 intraductal papillary mucinous neoplasms of the pancreas and 32 pancreatic ductal adenocarcinomas, which revealed that 48 (40.7%) of the 118 IPMNs but none of the 32 PDAs harbored GNAS mutations
22277900 Copy number variants in the GNAS region are not likely to cause an Albright's hereditary osteodystrophy.
22259056 Data suggest that not all cAMP activation is the same; adrenal lesions harboring GNAS or PRKAR1A mutations share downstream activation of certain oncogenic signals (such as MAPK and cell cycle genes) but differ substantially in effects on others.
22245114 meta-analysis. the detection of GNAS mutation could be a valuable adjunct to conventional histopathologic diagnosis of fibrous dysplasia.
22200434 GNAS1 genes missense mutations have to be considered from now on for the genesis of Sagliker syndrome
21924916 Our results indicate that there is no association between the GNAS1 T393C polymorphism and 2-year survival among patients with glioblastoma multiforme.
21910239 Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
21890629 activated XLalphas and Galphas traffic differently, and this may form the basis for the differences in their cellular actions
21836370 investigation of molecular diagnostic test for pseudohypoparathyroidism type 1b using two primer pairs specific for methylated/unmethylated alleles of GNAS, evaluating methylation status of GNAS promoter region/exon A/B
21835143 somatic GNAS-activating mutations in sporadic benign and malignant liver tumors are characterized by an inflammatory phenotype
21775669 GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.
21773967 Somatic TSHR mutations in the exons 9 and 10 and Gsalpha mutations, were screened.
21737952 Genetic variation in gsalpha protein as a new indicator in screening test for vasovagal syncope.
21710407 genetic association studies of 393T>C SNP of GNAS1 gene/heroin withdrawal symptoms: During most intense withdrawal, TT homozygotes (n=4) had significantly higher pulse rates (primary outcome criterion) than C-allele carriers (n=29). [LETTER; Germany]
21677417 Study did not demonstrate an association between the GNAS T393C genotype and prostate cancer.
21664251 A novel aspect of GNAS imprinting: higher maternal expression of G-alpha-s in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart
21622536 C terminus of Galpha(s) was found to be necessary for LHR and beta(2)-AR signaling.
21584660 Since immunohistochemical expression of NESP-55 is largely confined to prolactinomas and GH adenomas, it raises the possibility that NESP-55 may somehow be involved in the secretory pathways of these specific cell types.
21554434 The glucose-dependent insulinotropic polypeptide receptor is overexpressed amongst GNAS1 mutation-negative somatotropinomas.
21523828 Some forms of pseudohypoparathyroidism type Ib are caused by homozygous or compound heterozygous mutation(s) in an unknown gene involved in establishing or maintaining GNAS methylation.
21521295 DNA MUTATIONAL ANALYSIS AND METHYLATION ANALYSIS OF GNAS GENE IN PHP AND PPHP, RARE DISORDERS
21488135 the mutations found in the pseudohypoparathyroidism type Ia (PHPIa) cohort selectively affect receptor coupling but not adenylyl cyclase activating functions of Gsa, while the PHPIa-associated mutation affects both.
21387769 We describe localization and structure of genes from GNAS1 cluster, which mutations are responsible for characteristic group of features described mainly as Albright's syndrome. [review]
21351142 Reduced expression of GNAS due to methylation defects could downregulate Gsalpha activity in other tissues beyond those described and could also be causative of Albright's hereditary osteodystrophy.
21340746 The aim of this study was to evaluate the potential prognostic value of T393C-single nucleotide polymorphism in complete resected only surgically treated esophageal cancer.
21308712 Overexpression of Galpha(s) or Galpha(12) active mutants enhanced androgen-induced androgen receptor transactivation. Galpha(s) active mutant sensitized androgen receptor to castration-level of androgen (R1881).
21186955 A family is diagnosed with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
21169072 We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected
21156401 GNAS1 T393C single nucleotide polymorphism represents a genetic host factor for predicting tumor progression also in patients with malignant melanoma.
20979189 This is the first report confirming somatic mosaicism for a hypofunctioning GNAS mutation in a Pseudohypoparathyrodism kindred.
20972248 Quantitative measurement of the methylation at the GNAS differentially methylated region was investigated to identify subtypes of pseudohypoparathyroidism type Ib.
20887824 Findings are consistent with the possibility that constitutive XLalphas activity adds to the molecular pathogenesis of MAS and fibrous dysplasia of bone.
20862257 Anaerobic culture of five neuroblastoma cell lines resulted in up-regulation of NESP55.
20804925 Base change at codon 201 of the alpha-subunit of the stimulatory G protein (GNAS) is found frequently in advanced colorectal cancer.
20803660 tissue-specific imprinting and imprinting mutations in the GNAS locus [review]
20689139 GNAS mutations were associated with pseudohypoparathyroidism type Ia.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20565774 Observational study of genotype prevalence. (HuGE Navigator)
20537689 RT-PCR analysis of ovarian cancer samples revealed that high mRNA expression levels of the GNAS genes, located at chromosome 20q13, was significantly unfavorable indicators of progression-free survival.
20531296 GNAS R201C expression was associated with elevated expression of Wnt and extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase (ERK1/2 MAPK) pathway target genes.
20468064 Observational study of gene-disease association. (HuGE Navigator)
20459687 Observational study of gene-disease association. (HuGE Navigator)
20443919 analysis of the imprinting Status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells
20427508 Paternal origin of GNAS mutations was clearly demonstrated in eight progressive osseous heteroplasia cases including one patient with mutation in exon 1
20398730 Mutations of the stimulatory G protein gene (GNAS) are found in a significant proportion of GH-secreting pituitary adenomas.
20346714 Mutations at the Arg(201) codon of the GNAS gene were not present in any of the COD and COF. GNAS mutations do not play a role in the pathogenesis of COD and COF. This makes a molecular distinction between FD and other fibro-osseous lesions of the jaws.
20336923 Mutation of the TSHR gene may be related to sTMG. The serum thyroid-stimulating hormone level plays an important role in the mutagenesis, but no significant difference was found for the GNAS gene.
20336923 Observational study of gene-disease association. (HuGE Navigator)
20203101 Cortisol activates the cAMP/protein kinase A/CREB-1 pathway via Galpha(s) induction, and the phosphorylated CREB-1 interacts with GR at the GRE to promote cPLA(2alpha) expression in amnion fibroblasts.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20150876 Gsp mutations may upregulate the expression of GHSR-1a mRNA and have no effect on ghrelin mRNA levels in human GH-secreting pituitary adenomas.
20133939 Ric-8B plays a critical and specific role in the control of G alpha(s) protein levels by modulating G alpha(s) ubiquitination and positively regulates G(s) signaling
20119640 The aim of this study was to perform an in silico analysis of the interaction of the human beta(2) adrenergic receptor with Galpha(s).
20061437 multiple methylation defects at the GNAS locus in the absence of STX16 microdeletions in 60% of our albright hereditary osteodystrophy patients.
20027678 GNAS1 T393C allele carrier status influences tumor progression and survival in gastric cancer with higher tumor stages and a worse outcome for C allele carriers
20027678 Observational study of gene-disease association. (HuGE Navigator)
20023040 We did not find any difference in the frequency of b1AR, b2AR, and GNAS S51F polymorphisms between LVABS patients and controlsS
20023040 Observational study of gene-disease association. (HuGE Navigator)
20015054 A particular clinical phenotype of Albright hereditary osteodystrophy is caused by a novel GNAS mutation.
20008020 Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19942373 Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism. This imprint is tissue-specific, mainly localized in the kidney and the thyroid. Review.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19874199 We have shown that permanent transfer of the mutated Gs cDNA in skeletal progenitors results in the transfer of the fundamental cellular phenotype linked to a constitutively active Gs, that is, an increased production of cAMP.
19858129 Identified Gsalpha coding mutations and GNAS imprinting defects in family with Pseudohypoparathyroidism.
19856255 A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
19826830 Mutation positivity of TSHR gene has a relation with sTMG. It is more probable that serum TSH level play an important role in mutagenesis.
19826830 Observational study of gene-disease association. (HuGE Navigator)
19593725 only maternally-transmitted adenylate cyclase-stimulating G alpha protein alleles were associated with birth weight and this association was restricted to African-American male newborns
19575869 The GNAS1 mutation exists in fibrous dysplasia.
19550078 in 45 Japanese subjects with autonomously functioning thyroid nodules, study found 29 somatic mutations: 22 in the TSHR gene & 7 in the Gsalpha gene
19550078 Observational study of gene-disease association. (HuGE Navigator)
19542315 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19513951 T393C polymorphism of the GNAS1 is associated with the course of Graves' disease.
19494712 Investigated the presence of activating missense mutations in the GNAS1 gene as well as of inactivating mutations in PRKAR1A in 29 sporadically occurring cardiac myxomas.
19449667 Pseudohypoparathyroidism type IA with maternally inherited GNAS mutation was diagnosed
19429701 Observational study of gene-disease association. (HuGE Navigator)
19412439 GNAS locus has a highly complex imprinted expression pattern, giving rise to transcripts (including non-coding) that are maternally, paternally, or biallelically expressed.
19381884 novel frame shift mutation in exon 11 of the GNAS gene identified in both of the two Chinese boys and their mother with pseudohypoparathyroidism
19381065 Galphas augments gamma ray-induced apoptosis by up-regulation of Bak expression via CREB and AP-1 in H1299 lung cancer cells.
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19287459 GNAS1 mutation detection increases diagnostic accuracy when distinguishing between intramuscular myxoma and low-grade myxofibrosarcoma.
19287459 Observational study of genetic testing. (HuGE Navigator)
19274060 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19243996 Observational study of gene-disease association. (HuGE Navigator)
19237173 Observational study of gene-disease association. (HuGE Navigator)
19189654 No association between the GNAS1 polymorphism and prostate cancer risk was apparent. The C/C genotype was more frequent among the prostate cancer patients (22.9%) than the controls (20.7%),without significance (OR, 1.30; 95% CI, 0.80-2.12; p=0.29).
19189654 Observational study of gene-disease association. (HuGE Navigator)
19169048 A CGT>TGT mutation at codon 201 of GNAS1 gene in a single case of NFPA was found. This finding suggests and confirms that G-protein mutations are rare and not crucial in non-functioning pituitary adenoma development
19169048 Observational study of gene-disease association. (HuGE Navigator)
19136681 SNPs in regulatory regions of GNAS impact upon Galphas expression and stimulated cAMP formation in human hearts in vitro and upon cardiac performance in vivo.
19136681 Observational study of gene-disease association. (HuGE Navigator)
19073398 A functional GNAS promoter polymorphism is associated with altered weight loss during short-term fasting.
19029852 The T393C SNP is a prognostic marker that could help to identify high risk patients suffering from head and neck cancer.
19029852 Observational study of gene-disease association. (HuGE Navigator)
19029774 Gsp mutations up-regulate GHRHR mRNA expression in GH-secreting pituitary adenoma cells & desensitize the adenoma cells to GHRH in terms of their GHRHR mRNA expression probably because of their saturation of GHRH signaling.
18951142 Out of 12 SNPs investigated in the 19 kb GNAS region, four presented signals of association (P < 0.05) with severe malaria.
18951142 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18812479 The platelet-based test is a novel tool for establishing the diagnosis of GNAS defects
18806481 Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. A novel mutation in the GNAS gene was identified.
18755267 Co-stimulation of G(s) and G(q) can result in the fine-tuning of STAT3 activation status, and this may provide the basis for cell type-specific responses following activation of hIP.
18700313 is a heterotrimeric protein consists of G alpha, G beta, and G gamma and plays a role in cellular signal transduction. (review)
18697996 plays a central role in receptor-mediated signal transduction, coupling receptor activation with the production of cAMP regulated by genetic imprinting
18694911 Toxic thyroid adenoma harbours elevated frequencies of GNAS mutation activating the cAMP pathway
18642089 Data found a lower than expected prevalence of gsp mutations in Brazilian somatotropinomas patients and a similar prevalence in non-functioning pituitary adenomas compared to previous studies from other countries.
18634020 There is a significant gender-dependent role of the GNAS1 T393C polymorphism in aseptic loosening after total hip arthroplasty.
18634020 Observational study of gene-disease association. (HuGE Navigator)
18597624 Activating GNAS mutations disrupt a pathway that is required for skeletal stem cell self-renewal.
18553568 While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of osseous heteroplasia from the non-progressive forms.
18553568 Observational study of gene-disease association. (HuGE Navigator)
18451148 Androgens transduce the G alphas-mediated activation of protein kinase A in prostate cells.
18367996 some girls with exaggerated or fluctuating thelarche may have an activating mutation in the GNAS gene, which codifies for alpha subunit of G stimulating protein (Gsalpha)
18362425 An association between positive tilting and mutation C/T,Ile 131 within the GNAS1 codon was found. The predisposition to vasovagal syncope seems to be associated with the GNAS1 FokI+ allele.
18362425 Observational study of gene-disease association. (HuGE Navigator)
18354007 Depressed suicides reveals increased Gs alpha localization in lipid raft domains of brain.
18347176 T393C SNP could be considered as a genetic marker to predict the clinical course of patients suffering from oropharyngeal and hypopharyngeal cancer.
18347176 Observational study of gene-disease association. (HuGE Navigator)
18258741 mutant Gsalpha-R265E, equivalent to transducin alpha-R238E was created; Gsalpha-R265E has facilitated activation by GTPgammaS, a slightly facilitated activation by GTP but much reduced receptor plus GTP stimulated activation
18192900 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18184921 results demonstrate that human oocytes maintain meiotic arrest prior to the LH surge using a guanine nucleotide binding protein (G protein) alpha stimulating signaling pathway similar to that of rodent oocytes
18182455 A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
18181202 The RBC lipid-raft-associated Gsalpha dependent signal transduction pathway results in increased cAMP and phosphoryllation of adducin.
18075835 GNAS1 gene mutations do not appear to be present in tissues of infants with SIDS.
18070145 FGFR4 expression is not associated with G-protein alpha subunit (gsp) mutation in human GH-secreting pituitary adenomas.
18038328 There is an absence of GNAS and EGFL6 mutations in common human cancers.
18006055 Single nucleotide polymorphism in the GNAS1 gene is not associated with chronic lymphocytic leukemia
18006055 Observational study of gene-disease association. (HuGE Navigator)
17991745 Galpha(s) protects neuroblastoma cells from hydrogen peroxide-induced apoptosis by repressing Bak induction.
17982386 Detection of activating mutations in leukocyte genomic DNA extracted from peripheral blood samples from girls with gonadotropin-independent precocious puberty was associated with the presence of other phenotypic manifestations of McCune Albright syndrome
17982384 The molecular lesion in McCune Albright syndrome is a postzygotic mutation in the GNAS gene that leads to activation of Gsalpha, the alpha chain of the heterotrimeric G protein, Gsalpha
17962410 analysis of a mutant G(salpha) harboring AVDT amino acid repeats within its GDP/GTP binding site, which was identified in unique patients with pseudohypoparathyroidism type Ia accompanied by neonatal diarrhea
17937059 Review discusses the clinical consequences of GNAS1 activating mutations in different body systems and organs, the diagnostic approach to McCune-Albright syndrome, and current therapeutic recommendations.
17803690 We suggest that Gsalpha is imprinted in the brain because cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism.
17672918 validated occurrence of an unusual TG 3' splice site in intron 3
17652219 haploinsufficiency of GNAS causes a significant reduction in the activation of the downstream target, CFTR, in vivo
17595244 Molecular analysis showed GNAS cluster imprinting defects in all pseudohypoparathyroidism type-Ib patients.
17594522 presence of a GNAS mutation did not predict a difference in a proliferation marker, surgical remission or response to somatostatin analog therapy
17566083 that normal and mutated clonogenic stromal cells express GNAS alternative transcripts other than the common Gsalpha, some of which may be relevant to the development of FD.
17514647 the impact of loss of imprinting on Gs alpha expression level and on tumoral phenotype has been investigated
17427647 Gene analysis indicated change from Arg at codon 201 to Cys in this patient with McCune-Albright syndrome
17388805 Observational study of gene-disease association. (HuGE Navigator)
17388805 In conclusion, the GNAS1 T393C variant is associated with migraine, which suggests a genetic basis for its higher SNS sensitivity.
17356712 Observational study of gene-disease association. (HuGE Navigator)
17356712 GNAS1 T393C is a novel independent host factor for disease progression in patients with intraheptic cholangiocarcinoma. The TT genotype was associated with a higher cell proliferation rate and less apoptosis.
17186357 Observational study of gene-disease association. (HuGE Navigator)
17186357 GNAS1 T393C single nucleotide polymorphism is a novel genetic host factor for disease progression in patients with invasive breast carcinoma
17164301 Paternal imprinting of Galpha(s) in the development of human obesity.
17161328 inactivating mutations leading to hormone resistance syndromes, pseudohypoparathyroidism types Ia and Ib [review]
17101633 The R201H-GNAS1 allele was present only in Sertoli cells, resulting in isolated Sertoli cell hyperfunction.
17062894 Observational study of gene-disease association. (HuGE Navigator)
17045734 Several residues present in the iL2 of the hFSHR are important for both coupling the receptor to the G(s) protein and maintaining the receptor molecule in an inactive conformation.
17020971 Observational study of gene-disease association. (HuGE Navigator)
17020971 GNAS1 polymorphism is associated with chronic lymphocytic leukemia
17008315 STAT3 activation by G alpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase
16876683 dopamine receptor type 1 and GNAS loci contribute to blood pressure regulation at rest
16789633 Patients with Albright's hereditary osteodystrophy were screened for underlying GNAS1 mutations.
16789629 Review of different types of pseudohypoparathyroidism and the variety of GNAS mutations found associated with these types.
16789628 Pseudohypoparathyroidism (PHP) types Ia and Ic result from heterozygous inactivating mutations of Gs alpha, the alpha-subunit of the heterotrimeric stimulatory G-protein, Gs. More than 100 mutations have been characterized.
16789627 This review summarizes the role of the Gs-alpha protein in pseudohypoparathyroidism.
16789620 Article reviews data from the literature to investigate whether patient inclusion criteria for GNAS1 analysis, the molecular methods used to search for R201 mutations, and the type of tissues analysed, can influence the mutation detection rate in MAS.
16575178 How imprinting of Gnas was discovered, the phenotypic consequences of mutations in each of the gene products, both in the mouse and human, and provide some conjectures to explain why this elaborate imprinted locus has evolved in this manner in mammals.
16484323 mutations that typically inactivate Gsalpha also impair XLalphas activity, consistent with a possible role for XLalphas deficiency in diseases caused by paternal GNAS mutations
16467086 Observational study of gene-disease association. (HuGE Navigator)
16442859 Regulation of Gsalpha protein by Runx2 seems to be of particular interest considering the increasing evidences on bone metabolism regulation by G proteins
16406317 Observational study of gene-disease association. (HuGE Navigator)
16406317 the GNAS1 T393C status could influence susceptibility for deficit schizophrenia in Italian subjects.
16315032 Clinical trial of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16210433 Observational study of gene-disease association. (HuGE Navigator)
16081638 In human myometrium, repression of the Galphas gene by NF-kappaB occurs through a non-DNA binding mechanism involving competition for limiting amounts of cellular coactivator proteins including cAMP response element binding protein binding protein.
16033819 Observational study of gene-disease association. (HuGE Navigator)
16004878 analysis of Galpha(i1) bound to a GDP-selective peptide
15894831 Observational study of gene-disease association. (HuGE Navigator)
15824158 Observational study of gene-disease association. (HuGE Navigator)
15711092 Pseudohypoparathyroidism is caused by heterozygous inactivating mutations in exons of GNAS encoding alpha subunit of Gsalpha. Autosomal dominant form caused by heterozygous mutations disrupting long-range imprinting control element of GNAS. (Review)
15701569 GSPalpha mutations have a role in progression of acromegaly in Mexican patients
15564881 GNAS T393C (rs7121) localizes to a recombination hotspot not in linkage disequilibrium with the rest of GNAS gene locus
15537666 Familial and sporadic forms of Pseudohypoparathyroidism type IB have distinct GNAS imprinting patterns that occur through different defects in the imprinting mechanism.
15531240 Observational study of gene-disease association. (HuGE Navigator)
15479166 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15479166 suggested that the GNAS1 T393C polymorphism is associated with ANS activity in youth and may be useful as a genetic marker for hypertension
15368366 Structure analysis showed that disruption of the salt bridge between R165 and E168 by the introduced mutations in Galpha subunits, caused important structural changes in the helical domain at the alphaD-alphaE loop (residues 160-175)
15361543 Expression of sensitization of adenyl cyclase 1 involves Galpha(s)-adenylyl cyclase interactions.
15234971 G alpha S has a role in thyroid-stimulating hormone receptor activation of cAMP production and inositol 1,4,5-trisphosphate turnover
15181091 isolated hyperfunctioning thyroid and adrenal adenomas displayed the mutation on the maternal and paternal alleles, respectively
15148396 Data report that the XL exon of Gsalpha is longer than presumed an additional 139 codons to XLalphas.
15147378 Observational study of gene-disease association. (HuGE Navigator)
15126527 Mutation in 33% of the 39 cases of isolated peripheral precocious puberty.
15112914 Missense point mutations in the GNAS1 gene, located on the long arm of chromosome 20 and encoding for the alpha subunited of G(s)(the G protein that stimulated cyclic AMP) of transmembrane glycoprotein receptors, have been identified.
15070926 Cluster analysis in subjects with the same genotypes did not generally show a genotype/phenotype correlation.
15053924 Iloprost stimulation (1 microM, 2 h) of IP prostanoid receptor expressed in HEK293 cells resulted in specific decrease of endogenous G(s)alpha protein in detergent-insensitive, caveolin-enriched, membrane domains
14991457 Disturbances of post-receptor trans-membrane signalling in Alzheimer's disease can be attributed to functional changes of G(salpha), independent of alterations in levels in normal aging.
14694347 Transgenic mice expressing an active form of Gs alpha exhibit selective deficits in prepulse inhibition (PPI) without exhibiting alterations in the startle response.
14500986 findings show that signaling via the erythrocyte beta2-adrenergic receptor and heterotrimeric guanine nucleotide-binding protein (Galphas) regulated the entry of the human malaria parasite Plasmodium falciparum
13678786 GNAS1 mutated stromal cells produce IL-6 at a basal magnitude and rate that are significantly higher than in the cognate wild-type cells
12970318 molecular analysis revealed that foci of malignancy and adjacent areas of hyperplasia and some areas of normal thyroid harbored activating mutations of Arg(201) in the GNAS1 gene
12970307 the stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands which has: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
12970263 patients with pseudohypoparathyroidism Ia display variable degrees of growth hormone-releasing hormone resistance, consistent with Gs alpha imprinting in human pituitary
12862199 a significant interaction between GNAS1 polymorphism and drinking status in the association with pulse pressure, reflected by a significant association between the T393C polymorphism and pulse pressure in moderate to heavy drinkers
12858292 allelic expression and methylation of CpG islands within exon 1A of GNAS1 in patients with sporadic pseudohypoparathyroidism type 1b, consistent with a maternal imprinting defect
12771991 Neuroendocrine secretory protein 55 is found in a subset of neuroendocrine tumours showing differentiation towards adrenal chromaffin cells and pancreatic islets cells and not in ileal carcinoids
12756386 gnas1 gene mutations were identified in subjects with fibrous dysplasia of bone
12624854 Overlapping transcripts of this protein identify the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy.
12621129 Observational study of genetic testing. (HuGE Navigator)
12621129 wide mutation heterogeneity of pseudohypoparathyroidism and pseudohypoparathyroidism type-Ia.
12619926 linkage at 20q13.3 in pseudohypoparathyroidism type 1b
12374764 Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
12364467 evidence for a predominant maternal origin of GNAS1 transcripts in different human adult endocrine tissues, particularly thyroid, ovary, and pituitary
12215464 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12215464 Association of GNAS1 gene variant with hypertension depending on smoking status
12199346 McCune-Albright syndrome is a rare disease caused by somatic postzygotic mutations at Arg201 in the GNAS1 gene that encodes for the Gsalpha protein
12119276 mutations and imprinting defects in disease -review
12116190 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12106601 beta1-adrenoceptor and beta2-adrenoceptor couple to Gs-proteins to activate adenylyl cyclase
11968001 These data provide new evidence that involves the helical domain as a regulator of Gs(alpha) function, in this case the alphaA helix, which is not directly involved with the nucleotide binding site nor the interdomain interface.
11926205 mutational analysis of the GNAS1 gene is a strong supportive tool for the diagnosis of pseudohypoparathyroidism type 1a
11910300 Observational study of gene-disease association. (HuGE Navigator)
11910300 Polymorphisms of genes encoding Gs protein alpha-subunit as risk factors for orthostatic hypotension.
11784876 Paternally inherited inactivating GNAS1 mutations cause progessive osseous heteroplasia (POH).
11779226 GTP-binding proteins G(salpha), G(ialpha), and Ran identified in mitochondria of human placenta
11583302 Genetic variaion of the extra-large stimulatory G protein alpha subunit leads to GS hyperfunction in platelets and is a risk factor for bleeding.

AA Sequence

MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNG      1 - 70
EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDF     71 - 140
DFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFET    141 - 210
KFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNR    211 - 280
WLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRIST    281 - 350
ASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL                              351 - 394
//

Text Mined References (417)

PMID Year Title
27362234 2016 Allosteric coupling from G protein to the agonist-binding pocket in GPCRs.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823173 2016 Activation of the cAMP/protein kinase A signalling pathway by coronin 1 is regulated by cyclin-dependent kinase 5 activity.
26701869 2016 Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.
26333472 2015 DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.
26248895 2015 GNAS mutations are not detected in parosteal and low-grade central osteosarcomas.
26206488 2015 Adenylyl Cyclase 5 Regulation by G?? Involves Isoform-Specific Use of Multiple Interaction Sites.
26160192 2015 A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.
25997889 2015 Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
25952723 2015 [Paternal GNAS mutations: Which phenotypes? What genetic counseling?].
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25894639 2015 Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
25882888 2015 Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.
25867268 2015 Activating GNAS and KRAS mutations in gastric foveolar metaplasia, gastric heterotopia, and adenocarcinoma of the duodenum.
25851935 2015 GNAS Spectrum of Disorders.
25840541 2015 GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma.
25807286 2015 Large-scale whole-genome sequencing of the Icelandic population.
25802348 2015 Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
25796395 2015 GNAS mutation is a frequent event in pancreatic intraductal papillary mucinous neoplasms and associated adenocarcinomas.
25761574 2015 A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
25740075 2015 GNAS mutation affecting codon 201 is rare in most human tumors.
25710380 2015 Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.
25603460 2015 Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
25594858 2015 Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
25558679 2014 [Genetic dependency of blood pressure and heart rate in patients with arterial hypertension and obesity].
25530484 2015 Assessment of clonality of multisegmental main duct intraductal papillary mucinous neoplasms of the pancreas based on GNAS mutation analysis.
25487351 2015 Osteoblast-specific expression of the fibrous dysplasia (FD)-causing mutation Gs?(R201C) produces a high bone mass phenotype but does not reproduce FD in the mouse.
25479586 2015 Clinical significance of GNAS mutation in intraductal papillary mucinous neoplasm of the pancreas with concomitant pancreatic ductal adenocarcinoma.
25288233 2014 GNAS mutation as an alternative mechanism of activation of the Wnt/?-catenin signaling pathway in gastric adenocarcinoma of the fundic gland type.
25269528 2014 Increased methylation at differentially methylated region of GNAS in infants born to gestational diabetes.
25241742 2014 Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives.
25219572 2015 GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
25150496 2014 The G protein ? subunit G?s is a tumor suppressor in Sonic hedgehog-driven medulloblastoma.
25007176 2014 GNAS1 mutation analysis in gastrointestinal tumors.
25005734 2015 Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
24986238 2014 Homozygous GNAS 393C-allele carriers with locally advanced esophageal cancer fail to benefit from platinum-based preoperative chemoradiotherapy.
24982418 2014 Different biochemical properties explain why two equivalent G? subunit mutants cause unrelated diseases.
24938521 2014 Preoperative GNAS and KRAS testing in the diagnosis of pancreatic mucinous cysts.
24925222 2014 GNAS is frequently mutated in both low-grade and high-grade disseminated appendiceal mucinous neoplasms but does not affect survival.
24898823 2014 Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis.
24897499 2014 Deep sequencing of cancer-related genes revealed GNAS mutations to be associated with intraductal papillary mucinous neoplasms and its main pancreatic duct dilation.
24878042 2014 Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.
24850831 2014 Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
24795070 2014 The GNAS1 gene in myelodysplastic syndromes (MDS).
24789540 2014 Lack of association between autonomously functioning thyroid nodules and germline polymorphisms of the thyrotropin receptor and G?s genes in a mild to moderate iodine-deficient Caucasian population.
24758907 2014 [Association between GNAS1 T393C polymorphism and therapeutic efficacy of tyrosine kinase inhibitor in pretreated advanced non-small cell lung cancer with unknown EGFR mutation status].
24755784 2014 GNAS gene variants affect ?-blocker-related survival after coronary artery bypass grafting.
24741584 2014 G?s protein expression is an independent predictor of recurrence in prostate cancer.
24525511 2014 Activating GNAS mutations in parosteal osteosarcoma.
24525507 2014 GNAS sequencing identifies IPMN-specific mutations in a subgroup of diminutive pancreatic cysts referred to as "incipient IPMNs".
24498230 2014 GNAS mutations identify a set of right-sided, RAS mutant, villous colon cancers.
24470207 2014 Frequent lack of GNAS mutations in colorectal adenocarcinoma associated with GNAS-mutated villous adenoma.
24423294 2014 Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
24312577 2013 GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24268734 2014 Analysis of GNAS1 mutations in myxoid soft tissue and bone tumors.
24145653 2014 Lobular endocervical glandular hyperplasia is a neoplastic entity with frequent activating GNAS mutations.
24107509 2013 The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.
24076664 2013 Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification.
24061513 2013 GNAS Is frequently mutated in a specific subgroup of intraductal papillary neoplasms of the bile duct.
23962387 2013 Evidence for genetic linkage between a polymorphism in the GNAS gene and malaria in South Indian population.
23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XL?s in fetal development.
23859711 2013 Genetic associations with hypertension: meta-analyses of six candidate genetic variants.
23846778 2013 Clinicopathological correlates of activating GNAS mutations in intraductal papillary mucinous neoplasm (IPMN) of the pancreas.
23844573 2013 Methylation levels at IGF2 and GNAS DMRs in infants born to preeclamptic pregnancies.
23796510 2013 Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
23753411 2013 Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide.
23752180 2014 An siRNA screen identifies the GNAS locus as a driver in 20q amplified breast cancer.
23548772 2013 GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.
23533243 2013 Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23532108 2013 Intraductal papillary mucinous neoplasms of the pancreas with distinct pancreatic ductal adenocarcinomas are frequently of gastric subtype.
23503642 2013 GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw.
23498145 2013 EUS-guided pancreatic fluid aspiration for DNA analysis of KRAS and GNAS mutations for the evaluation of pancreatic cystic neoplasia: a pilot study.
23412865 2013 Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism.
23403822 2013 Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23370769 2013 Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions.
23353685 2013 ?-Arrestin-1 directly interacts with G?s and regulates its function.
23346880 2013 Prevalence of activating thyrotropin receptor and Gs? gene mutations in paediatric thyroid toxic adenomas: a multicentric Italian study.
23337932 2013 GNAS is not involved in gastrointestinal tumour formation in Peutz-Jeghers syndrome.
23335286 2013 KRAS and GNAS mutations and p53 overexpression in biliary intraepithelial neoplasia and intrahepatic cholangiocarcinomas.
23288949 2013 Intragenic suppression of a constitutively active allele of Gs? associated with McCune-Albright syndrome.
23288882 2013 Granulation pattern, but not GSP or GHR mutation, is associated with clinical characteristics in somatostatin-naive patients with somatotroph adenomas.
23284784 2012 A mouse model for osseous heteroplasia.
23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
23208952 2013 Frequent GNAS and KRAS mutations in pyloric gland adenoma of the stomach and duodenum.
23201296 2013 The T393C polymorphism of GNAS1 is a predictor for relapse and survival in resectable non-small cell lung cancer.
23095209 2013 Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
23065660 2013 GNAS A-1121G variant is associated with improved diastolic dysfunction in response to exercise training in heart failure patients.
23034519 2012 Genome-wide promoter methylation analysis in neuroblastoma identifies prognostic methylation biomarkers.
22954004 2012 GNAS codon 201 mutations are uncommon in intraductal papillary neoplasms of the bile duct.
22931242 2012 GNAS1 (G?s) gene T393C polymorphism and renal cell carcinoma risk in a North Indian population: a case-control study.
22875848 2012 Expression of the GTP-binding protein G?s in human myometrial cells is regulated by ubiquitination and protein degradation: involvement of proteasomal inhibition by trichostatin A.
22859495 2013 Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts.
22833384 2012 GNAS1 and PHD2 short-interfering RNA support bone regeneration in vitro and in an in vivo sheep model.
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
22679513 2012 Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
22593505 2012 Odontogenic myxomas are not associated with GNAS1 mutations.
22564667 2012 Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.
22511293 2012 Paternally inherited gs? mutation impairs adipogenesis and potentiates a lean phenotype in vivo.
22495359 2012 IMP3, NESP55, TTF-1 and CDX2 serve as an immunohistochemical panel in the distinction among small-cell carcinoma, gastrointestinal carcinoid, and pancreatic endocrine tumor metastasized to the liver.
22492776 2012 Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
22378814 2012 A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
22374786 2012 Frequent activating GNAS mutations in villous adenoma of the colorectum.
22371153 2012 The T393C polymorphism of GNAS1 as a predictor for chemotherapy sensitivity and survival in advanced non-small-cell lung cancer patients treated with gemcitabine plus platinum.
22367301 2012 Digital fibromyxoma (superficial acral fibromyxoma): a detailed characterization of 124 cases.
22355676 2011 Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas.
22277900 2012 No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
22259056 2012 Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
22245114 2012 The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases.
22200434 2012 International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.
22177524 2012 Ser/?Thr residues at ?3/?5 loop of G?s are important in morphine-induced adenylyl cyclase sensitization but not mitogen-activated protein kinase phosphorylation.
21924916 2011 Role of the GNAS1 T393C polymorphism in patients with glioblastoma multiforme.
21910239 2011 Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
21890629 2011 Extra-long G?s variant XL?s protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling.
21836370 2011 Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.
21835143 2012 GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
21775669 2011 Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development.
21773967 2011 High prevalence of TSHR/Gs? mutation-negative clonal hot thyroid nodules (HNs) in a Turkish cohort.
21737952 2011 Genetic variation in gs? protein as a new indicator in screening test for vasovagal syncope.
21710407 2011 Influence of the 393T>C polymorphism of the GNAS1 gene on the intensity of opiate withdrawal.
21677417 2011 Lack of association of the genotype in the GNAS Fok I polymorphism and prostate cancer.
21664251 2011 A novel aspect of GNAS imprinting: higher maternal expression of G?s in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart.
21622536 2011 The extreme C-terminal region of G?s differentially couples to the luteinizing hormone and beta2-adrenergic receptors.
21584660 2011 Immunohistochemical expression of neuroendocrine secretory protein-55 (NESP-55) in pituitary adenomas.
21554434 2011 The glucose-dependent insulinotropic polypeptide receptor is overexpressed amongst GNAS1 mutation-negative somatotropinomas and drives growth hormone (GH)-promoter activity in GH3 cells.
21523828 2011 Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?
21521295 2011 Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
21488135 2011 Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gs?-receptor interaction.
21387769 2010 [Genetic counseling in osteodystrophy Albright's syndrome. Part II. GNAS1 gene and encoded protein function, genetic forecast and treatment].
21351142 2011 Gs? activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
21340746 2011 The GNAS1 T393C single nucleotide polymorphism predicts the natural postoperative course of complete resected esophageal cancer.
21308712 2011 G-protein alpha-s and -12 subunits are involved in androgen-stimulated PI3K activation and androgen receptor transactivation in prostate cancer cells.
21269460 2011 Initial characterization of the human central proteome.
21186955 2011 A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
21184583 2011 Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.
21169072 2011 [Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].
21156401 2010 GNAS1 T393C polymorphism and disease progression in patients with malignant melanoma.
21044946 2011 Site-specific analysis of protein S-acylation by resin-assisted capture.
20979189 2010 Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.
20972248 2011 Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
20887824 2011 Potent constitutive cyclic AMP-generating activity of XL?s implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.
20862257 2010 Differentiation in neuroblastoma: diffusion-limited hypoxia induces neuro-endocrine secretory protein 55 and other markers of a chromaffin phenotype.
20852621 2010 Cryptochrome mediates circadian regulation of cAMP signaling and hepatic gluconeogenesis.
20804925 2010 Analysis of the frequency of GNAS codon 201 mutations in advanced colorectal cancer.
20803660 2010 Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus.
20689139 2010 Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20565774 2010 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
20537689 2010 Amplification of GNAS may be an independent, qualitative, and reproducible biomarker to predict progression-free survival in epithelial ovarian cancer.
20531296 2010 The activating mutation R201C in GNAS promotes intestinal tumourigenesis in Apc(Min/+) mice through activation of Wnt and ERK1/2 MAPK pathways.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20459687 2010 Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
20443919 2009 Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells.
20427508 2010 Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
20398730 2010 GNAS imprinting and pituitary tumors.
20346714 2010 Analysis of GNAS mutations in cemento-ossifying fibromas and cemento-osseous dysplasias of the jaws.
20336923 2010 Mutations of GNAS and TSHR genes in subclinical toxic multinodular goiter.
20203101 2010 Induction of Galphas contributes to the paradoxical stimulation of cytosolic phospholipase A2alpha expression by cortisol in human amnion fibroblasts.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20150876 2010 Elevation of growth hormone secretagogue receptor type 1a mRNA expression in human growth hormone-secreting pituitary adenoma harboring G protein alpha subunit mutation.
20133939 2010 Ric-8B stabilizes the alpha subunit of stimulatory G protein by inhibiting its ubiquitination.
20119640 2010 Distinct interactions between the human adrenergic beta(2) receptor and Galpha(s)--an in silico study.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20061437 2010 Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
20027678 2009 Association of the GNAS1 T393C polymorphism with tumor stage and survival in gastric cancer.
20023040 2010 L41Q polymorphism of the G protein coupled receptor kinase 5 is associated with left ventricular apical ballooning syndrome.
20015054 2010 Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation.
20008020 2010 Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19946888 2010 Defining the membrane proteome of NK cells.
19942373 2010 [Epigenetics and pseudohypoparathyroidism].
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19874199 2010 Transfer, analysis, and reversion of the fibrous dysplasia cellular phenotype in human skeletal progenitors.
19858129 2010 Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
19856255 2010 A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
19826830 2010 United detection GNAS and TSHR mutations in subclinical toxic multinodular goiter.
19593725 2010 Association of maternally inherited GNAS alleles with African-American male birth weight.
19575869 2009 [Abnormal expression of c-myc, p53, p16 protein and GNAS1 gene mutation in fibrous dysplasia].
19550078 2009 Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan.
19542315 2009 Effect of 393T>C polymorphism of GNAS1 gene on dobutamine response in Chinese healthy subjects.
19513951 2009 The T393C polymorphism of the Galphas gene (GNAS1) is associated with the course of Graves' disease.
19494712 2009 Analysis of GNAS1 and PRKAR1A gene mutations in human cardiac myxomas not associated with multiple endocrine disorders.
19449667 2009 Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.
19429701 2009 Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.
19412439 2007 The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.
19381884 2009 Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.
19381065 2009 Stimulatory heterotrimeric G protein augments gamma ray-induced apoptosis by up-regulation of Bak expression via CREB and AP-1 in H1299 human lung cancer cells.
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19287459 2009 GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma.
19274060 2009 GNAS1 T393C polymorphism is associated with histopathological response to neoadjuvant radiochemotherapy in esophageal cancer.
19243996 2009 Genetic insight into syncopal tilted population with severe clinical presentation.
19237173 2009 Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19189654 Lack of involvement of the GNAS1 T393C polymorphism in prostate cancer risk in a Japanese population.
19169048 2008 Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations.
19136681 2009 A novel functional haplotype in the human GNAS gene alters Galphas expression, responsiveness to beta-adrenoceptor stimulation, and peri-operative cardiac performance.
19073398 2008 A functional GNAS promoter polymorphism is associated with altered weight loss during short-term fasting.
19029852 2008 The GNAS1 T393C polymorphism predicts survival in patients with advanced squamous cell carcinoma of the larynx.
19029774 2008 Elevation of growth hormone-releasing hormone receptor messenger ribonucleic acid expression in growth hormone-secreting pituitary adenoma with Gsalpha protein mutation.
18951142 2008 Association of the GNAS locus with severe malaria.
18812479 2008 GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
18806481 2008 Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene.
18755267 2008 Prostacyclin receptor-induced STAT3 phosphorylation in human erythroleukemia cells is mediated via Galpha(s) and Galpha(16) hybrid signaling.
18700313 2008 [Heterotrimeric G protein].
18697996 2008 Physiological dysfunctions associated with mutations of the imprinted Gnas locus.
18694911 2008 Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
18642089 2009 Prevalence of gsp oncogene in somatotropinomas and clinically non-functioning pituitary adenomas: our experience.
18634020 2008 Gender-dependent association of the GNAS1 T393C polymorphism with early aseptic loosening after total hip arthroplasty.
18597624 2008 Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone.
18553568 2008 Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
18451148 2008 Androgens transduce the G alphas-mediated activation of protein kinase A in prostate cells.
18367996 2008 Premature thelarche from phenotype to genotype.
18362425 2008 Mutation T/C,Ile 131 of the gene encoding the alfa subunit of the human Gs protein and predisposition to vasovagal syncope.
18354007 2008 Postmortem brain tissue of depressed suicides reveals increased Gs alpha localization in lipid raft domains where it is less likely to activate adenylyl cyclase.
18347176 2008 Overall and relapse-free survival in oropharyngeal and hypopharyngeal squamous cell carcinoma are associated with genotypes of T393C polymorphism of the GNAS1 gene.
18258741 2008 The same mutation in Gsalpha and transducin alpha reveals behavioral differences between these highly homologous G protein alpha-subunits.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
18192900 2008 A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation.
18184921 2008 Meiotic arrest in human oocytes is maintained by a Gs signaling pathway.
18182455 2008 A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
18181202 2008 Functional evidence for presence of lipid rafts in erythrocyte membranes: Gsalpha in rafts is essential for signal transduction.
18075835 Sudden infant death syndrome and activating GNAS1 gene mutations.
18070145 2008 Expression of pituitary tumour-derived, N-terminally truncated isoform of fibroblast growth factor receptor 4 (ptd-FGFR4) correlates with tumour invasiveness but not with G-protein alpha subunit (gsp) mutation in human GH-secreting pituitary adenomas.
18038328 2008 Absence of GNAS and EGFL6 mutations in common human cancers.
18006055 2008 The GNAS1 T393C polymorphism and lack of clinical prognostic value in chronic lymphocytic leukemia.
17991745 2008 Stimulatory heterotrimeric GTP-binding protein inhibits hydrogen peroxide-induced apoptosis by repressing BAK induction in SH-SY5Y human neuroblastoma cells.
17982386 2007 GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty.
17982384 2007 Genetic and molecular aspects of McCune-Albright syndrome.
17962410 2007 Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle.
17937059 2007 McCune-Albright syndrome and disorders due to activating mutations of GNAS1.
17803690 2008 Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17652219 2007 Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
17595244 2007 Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
17594522 2007 Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remission.
17566083 2007 GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha.
17514647 2007 Gs alpha overexpression and loss of Gs alpha imprinting in human somatotroph adenomas: association with tumor size and response to pharmacologic treatment.
17427647 2007 A case of McCune-Albright syndrome with associated multiple endocrinopathies.
17388805 2007 GNAS1 T393C polymorphism is associated with migraine.
17356712 2007 GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17186357 2007 The T393C polymorphism in the gene GNAS1 of G protein is associated with survival of patients with invasive breast carcinoma.
17164301 2007 Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.
17110384 2007 Conditional stimulation of type V and VI adenylyl cyclases by G protein betagamma subunits.
17101633 2006 Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
17062894 2006 The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome.
17045734 2007 Role of the intracellular domains of the human FSH receptor in G(alphaS) protein coupling and receptor expression.
17020971 2006 The GNAS1 T393C polymorphism is associated with disease progression and survival in chronic lymphocytic leukemia.
17008315 2006 Activation of STAT3 by G alpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase.
16876683 2006 Effects of dopamine receptor type 1 and Gs protein alpha subunit gene polymorphisms on blood pressure at rest and in response to stress.
16789633 2006 Albright's hereditary osteodystrophy.
16789629 2006 Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
16789628 2006 Genetics of pseudohypoparathyroidism types Ia and Ic.
16789627 2006 Pseudohypoparathyroidism: history of the disease.
16789620 2006 Genetics of McCune-Albright syndrome.
16575178 2006 Imprinting the Gnas locus.
16484323 2006 Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.
16467086 2006 The GNAS1 T393C polymorphism predicts survival in patients with clear cell renal cell carcinoma.
16460020 2006 Solution structure of the first intracellular loop of prostacyclin receptor and implication of its interaction with the C-terminal segment of G alpha s protein.
16442859 2006 Runx2 regulates the expression of GNAS on SaOs-2 cells.
16406317 2006 The T393C polymorphism of the GNAS1 gene is associated with deficit schizophrenia in an Italian population sample.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16315032 2005 Polymorphisms of genes CYP2D6, ADRB1 and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study.
16210433 2006 Effects of polymorphisms in beta1-adrenoceptor and alpha-subunit of G protein on heart rate and blood pressure during exercise test. The Finnish Cardiovascular Study.
16110341 2005 Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.
16081638 2005 Expression of the GTP-binding protein (Galphas) is repressed by the nuclear factor kappaB RelA subunit in human myometrium.
16033819 2005 GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer.
16004878 2005 Structure of Galpha(i1) bound to a GDP-selective peptide provides insight into guanine nucleotide exchange.
15894831 2004 Association of a GNAS1 gene variant with hypertension and diabetes mellitus.
15824158 2005 The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer.
15817905 2005 Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
15800843 2005 A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
15711092 2005 GNAS locus and pseudohypoparathyroidism.
15701569 2005 GSPalpha mutations in Mexican patients with acromegaly: potential impact on long term prognosis.
15592469 2005 Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
15564881 2004 Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies.
15537666 2005 Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
15531240 2004 G protein polymorphisms do not predict weight loss and improvement of hypertension in severely obese patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15479166 2004 T393C polymorphism of GNAS1 associated with the autonomic nervous system in young, healthy Japanese subjects.
15368366 2004 Mutation of the highly conserved Arg165 and Glu168 residues of human Gsalpha disrupts the alphaD-alphaE loop and enhances basal GDP/GTP exchange rate.
15361543 2004 Using molecular tools to dissect the role of Galphas in sensitization of AC1.
15242332 2004 Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.
15234971 2004 A dominant negative Galphas mutant that prevents thyroid-stimulating hormone receptor activation of cAMP production and inositol 1,4,5-trisphosphate turnover: competition by different G proteins for activation by a common receptor.
15181091 2004 Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors.
15148396 2004 XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex.
15147378 2004 Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders.
15126527 2004 Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
15112914 2004 McCune-Albright syndrome associated with pituitary microadenoma: patient report.
15070926 2004 Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
15053924 2004 Long-term agonist stimulation of IP prostanoid receptor depletes the cognate G(s)alpha protein in membrane domains but does not change the receptor level.
14991457 2004 Impairment of G(salpha) function in human brain cortex of Alzheimer's disease: comparison with normal aging.
14723729 2004 Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14694347 2004 Sensorimotor gating deficits in transgenic mice expressing a constitutively active form of Gs alpha.
14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
14500986 2003 Erythrocyte G protein-coupled receptor signaling in malarial infection.
13678786 2003 Osteoclastogenesis in fibrous dysplasia of bone: in situ and in vitro analysis of IL-6 expression.
12970318 2003 Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.
12970307 2003 The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.
12970263 2003 Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.
12862199 2003 Association of the GNAS1 gene variant with hypertension is dependent on alcohol consumption.
12858292 2003 Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
12771991 2003 NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids.
12756386 2003 Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?
12749029 2003 Altered CTX-catalyzed and endogenous [32P]ADP-ribosylation of stimulatory G protein alphas isoforms in postmortem bipolar affective disorder temporal cortex.
12748287 2003 Identification of tetratricopeptide repeat 1 as an adaptor protein that interacts with heterotrimeric G proteins and the small GTPase Ras.
12727968 2003 Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
12719376 2003 Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
12672054 2003 Prostaglandin D2 inhibits the production of interleukin-12 in murine dendritic cells through multiple signaling pathways.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12656668 2003 A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.
12652642 2003 Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol.
12626323 2003 Glucagon and regulation of glucose metabolism.
12624854 2003 Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
12621129 2003 Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
12619926 2003 The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3.
12605446 2003 Progressive osseous heteroplasia in the face of a child.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12391161 2002 Direct binding of the beta1 adrenergic receptor to the cyclic AMP-dependent guanine nucleotide exchange factor CNrasGEF leads to Ras activation.
12374764 2002 Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
12364467 2002 The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads.
12215464 2002 Association of GNAS1 gene variant with hypertension depending on smoking status.
12199346 2002 Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.
12147228 2002 Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
12116190 2002 Association analysis of a polymorphism in the G-protein stimulatory alpha subunit in patients with major depression.
12106601 2002 Similarities and differences in the coupling of human beta1- and beta2-adrenoceptors to Gs(alpha) splice variants.
12036966 2002 Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.
12030931 2002 Chromosomal assignments of expressed sequence tags for ACTG1, AHSG, COL1A1, GNAS1, and RPLP1 expressed abundantly in the bovine foetus.
12024004 2002 GNAS1 mutations and progressive osseous heteroplasia.
11968001 2002 S111N mutation in the helical domain of human Gs(alpha) reduces its GDP/GTP exchange rate.
11926205 2002 Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a.
11916537 Multiplicity of mechanisms of serotonin receptor signal transduction.
11910300 2002 Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension.
11836449 2002 An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.
11812005 2002 Identification of G-proteins coupling to the vasoactive intestinal peptide receptor VPAC(1) using immunoaffinity chromatography: evidence for precoupling.
11788646 2002 GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11779226 2002 GTP-binding proteins G(salpha), G(ialpha), and Ran identified in mitochondria of human placenta.
11729322 2001 RGS-PX1, a GAP for GalphaS and sorting nexin in vesicular trafficking.
11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600515 2001 Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b.
11583900 2001 Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes.
11450852 2001 Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11447126 2001 Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage.
11297617 2001 Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.
11294873 2001 Gbeta gamma isoforms selectively rescue plasma membrane localization and palmitoylation of mutant Galphas and Galphaq.
11294659 2001 Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11241472 2001 Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
11095461 2000 Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.
11067869 2000 A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
11029463 2001 Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.
10931851 2000 Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties.
10749992 2000 An imprinted antisense transcript at the human GNAS1 locus.
10729789 2000 Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein.
10598591 1999 A novel spliced variant of the type 1 corticotropin-releasing hormone receptor with a deletion in the seventh transmembrane domain present in the human pregnant term myometrium and fetal membranes.
10571700 1999 A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
10521440 1999 Kinetics of ternary complex formation with fusion proteins composed of the A(1)-adenosine receptor and G protein alpha-subunits.
10493819 1999 The luteinizing hormone receptor activates phospholipase C via preferential coupling to Gi2.
10487696 1999 Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.
10200251 1999 A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity.
10190480 1999 McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
9876352 1998 GNAS1 mutational analysis in pseudohypoparathyroidism.
9860993 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
9794454 1998 Role of regulator of G protein signaling in desensitization of the glucose-dependent insulinotropic peptide receptor.
9727013 1998 A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
9707596 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
9647645 1998 The mammalian calcium-binding protein, nucleobindin (CALNUC), is a Golgi resident protein.
9626141 1998 Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors.
9525885 1998 Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation.
9506752 1998 An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
9417641 1997 Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.
9328353 1997 A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
9268375 1997 Interaction of Gsalpha with the cytosolic domains of mammalian adenylyl cyclase.
9267696 1997 Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone.
9228084 1997 Differential regulation of adenylyl cyclases by Galphas.
9159128 1997 Conditional activation defect of a human Gsalpha mutant.
9111083 1997 Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity.
8766942 1996 Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients.
8702665 1996 Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
8663226 1996 Involvement of Gs and Gi proteins in dual coupling of the luteinizing hormone receptor to adenylyl cyclase and phospholipase C.
8621513 1996 Different single receptor domains determine the distinct G protein coupling profiles of members of the vasopressin receptor family.
8552586 1996 The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families.
8388883 1993 Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
8126161 1994 An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8072545 1994 Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function.
8037842 1994 Identification of cardiac autoantigens in human heart cDNA libraries using acute rheumatic fever sera.
8011597 1994 The complex of human Gs protein with the beta 3 adrenergic receptor: a computer-aided molecular modeling study.
7997272 1994 XL alpha s is a new type of G protein.
7815417 1994 Parental origin of transcription from the human GNAS1 gene.
7797570 1995 Evidence for a regulated interaction between heterotrimeric G proteins and caveolin.
7751320 1995 Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
7739708 1995 Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.
7737262 1995 G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
7523385 1994 A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
3131741 1988 Complete cDNA sequence of a human stimulatory GTP-binding protein alpha subunit.
3127824 1988 Isolation and characterization of the human Gs alpha gene.
3093273 1986 Identification by molecular cloning of two forms of the alpha-subunit of the human liver stimulatory (GS) regulatory component of adenylyl cyclase.
3024154 1986 Human cDNA clones for four species of G alpha s signal transduction protein.
2549426 1989 GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
2122458 1990 Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
2109828 1990 Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
1944469 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
1908089 1991 Glucagon induces disaggregation of polymer-like structures of the alpha subunit of the stimulatory G protein in liver membranes.
1769666 1991 Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization.
1716359 1991 Differential expression of novel Gs alpha signal transduction protein cDNA species.
1594625 1992 Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
1505964 1992 A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.