Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17594522 |
presence of a GNAS mutation did not predict a difference in a proliferation marker, surgical remission or response to somatostatin analog therapy |
| 18347176 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18362425 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11910300 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12116190 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 12215464 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 12621129 |
Observational study of genetic testing. (HuGE Navigator) |
| 15147378 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15479166 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 15531240 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15824158 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15894831 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16033819 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16210433 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16315032 |
Clinical trial of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 16406317 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16467086 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17020971 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17062894 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17186357 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17356712 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17388805 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18006055 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18192900 |
Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 18075835 |
GNAS1 gene mutations do not appear to be present in tissues of infants with SIDS. |
| 17991745 |
Galpha(s) protects neuroblastoma cells from hydrogen peroxide-induced apoptosis by repressing Bak induction. |
| 17186357 |
GNAS1 T393C single nucleotide polymorphism is a novel genetic host factor for disease progression in patients with invasive breast carcinoma |
| 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 |
| 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 |
| 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 |
| 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. |
| 17652219 |
haploinsufficiency of GNAS causes a significant reduction in the activation of the downstream target, CFTR, in vivo |
| 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. |
| 17595244 |
Molecular analysis showed GNAS cluster imprinting defects in all pseudohypoparathyroidism type-Ib patients. |
| 17514647 |
the impact of loss of imprinting on Gs alpha expression level and on tumoral phenotype has been investigated |
| 17672918 |
validated occurrence of an unusual TG 3' splice site in intron 3 |
| 15148396 |
Data report that the XL exon of Gsalpha is longer than presumed an additional 139 codons to XLalphas. |
| 17020971 |
GNAS1 polymorphism is associated with chronic lymphocytic leukemia |
| 17388805 |
In conclusion, the GNAS1 T393C variant is associated with migraine, which suggests a genetic basis for its higher SNS sensitivity. |
| 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. |
| 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. |
| 16876683 |
dopamine receptor type 1 and GNAS loci contribute to blood pressure regulation at rest |
| 15701569 |
GSPalpha mutations have a role in progression of acromegaly in Mexican patients |
| 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) |
| 12624854 |
Overlapping transcripts of this protein identify the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy. |
| 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 |
| 11784876 |
Paternally inherited inactivating GNAS1 mutations cause progessive osseous heteroplasia (POH). |
| 12374764 |
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. |
| 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 |
| 12119276 |
mutations and imprinting defects in disease -review |
| 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 |
| 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 |
| 12970263 |
patients with pseudohypoparathyroidism Ia display variable degrees of growth hormone-releasing hormone resistance, consistent with Gs alpha imprinting in human pituitary |
| 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. |
| 16004878 |
analysis of Galpha(i1) bound to a GDP-selective peptide |
| 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 |
| 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. |
| 17101633 |
The R201H-GNAS1 allele was present only in Sertoli cells, resulting in isolated Sertoli cell hyperfunction. |
| 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. |
| 17427647 |
Gene analysis indicated change from Arg at codon 201 to Cys in this patient with McCune-Albright syndrome |
| 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. |
| 15479166 |
suggested that the GNAS1 T393C polymorphism is associated with ANS activity in youth and may be useful as a genetic marker for hypertension |
| 15537666 |
Familial and sporadic forms of Pseudohypoparathyroidism type IB have distinct GNAS imprinting patterns that occur through different defects in the imprinting mechanism. |
| 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 |
| 15361543 |
Expression of sensitization of adenyl cyclase 1 involves Galpha(s)-adenylyl cyclase interactions. |
| 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. |
| 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 |
| 11910300 |
Polymorphisms of genes encoding Gs protein alpha-subunit as risk factors for orthostatic hypotension. |
| 12364467 |
evidence for a predominant maternal origin of GNAS1 transcripts in different human adult endocrine tissues, particularly thyroid, ovary, and pituitary |
| 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. |
| 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. |
| 16789629 |
Review of different types of pseudohypoparathyroidism and the variety of GNAS mutations found associated with these types. |
| 16789633 |
Patients with Albright's hereditary osteodystrophy were screened for underlying GNAS1 mutations. |
| 14694347 |
Transgenic mice expressing an active form of Gs alpha exhibit selective deficits in prepulse inhibition (PPI) without exhibiting alterations in the startle response. |
| 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 |
| 16442859 |
Regulation of Gsalpha protein by Runx2 seems to be of particular interest considering the increasing evidences on bone metabolism regulation by G proteins |
| 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] |
| 12619926 |
linkage at 20q13.3 in pseudohypoparathyroidism type 1b |
| 15070926 |
Cluster analysis in subjects with the same genotypes did not generally show a genotype/phenotype correlation. |
| 11926205 |
mutational analysis of the GNAS1 gene is a strong supportive tool for the diagnosis of pseudohypoparathyroidism type 1a |
| 15126527 |
Mutation in 33% of the 39 cases of isolated peripheral precocious puberty. |
| 12215464 |
Association of GNAS1 gene variant with hypertension depending on smoking status |
| 11779226 |
GTP-binding proteins G(salpha), G(ialpha), and Ran identified in mitochondria of human placenta |
| 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 |
| 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. |
| 16789627 |
This review summarizes the role of the Gs-alpha protein in pseudohypoparathyroidism. |
| 17008315 |
STAT3 activation by G alpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase |
| 12106601 |
beta1-adrenoceptor and beta2-adrenoceptor couple to Gs-proteins to activate adenylyl cyclase |
| 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 |
| 12621129 |
wide mutation heterogeneity of pseudohypoparathyroidism and pseudohypoparathyroidism type-Ia. |
| 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) |
| 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 |
| 16406317 |
the GNAS1 T393C status could influence susceptibility for deficit schizophrenia in Italian subjects. |
| 15564881 |
GNAS T393C (rs7121) localizes to a recombination hotspot not in linkage disequilibrium with the rest of GNAS gene locus |
