Auriculo-condylar syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome.
|
28328130 |
2017 |
Auriculo-condylar syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
Auriculo-condylar syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
|
25026904 |
2015 |
Albinism, Ocular
|
0.310 |
Biomarker
|
disease |
BEFREE |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
|
27607449 |
2016 |
Acute Chest Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3.
|
22560091 |
2012 |
Acute Chest Syndrome
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We found that ACS-associated mutations in GNAI3 produce dominant-negative Gα(i3) mutant proteins that couple to ET(A)R but cannot bind and hydrolyze guanosine triphosphate, resulting in the prevention of endothelin-mediated activation of Gα(q/11) and PLC.
|
27072656 |
2016 |
Acute Chest Syndrome
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing.
|
23315542 |
2013 |
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome.
|
28328130 |
2017 |
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We investigated these signaling pathways and the involvement of G protein subunit alpha i1 (GNAI1), GNAI2, and GNAI3 in the development of CAC in mice and humans.
|
30836096 |
2019 |
Colitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
B6;129 wild-type (control) or mice with disruption of Gnai1, Gnai2, and/or Gnai3 or conditional disruption of Gnai2 in CD11c<sup>+</sup> or epithelial cells were given dextran sulfate sodium (DSS) to induce colitis followed by azoxymethane (AOM) to induce carcinogenesis; some mice were given an antibody against IL6.
|
30836096 |
2019 |
Colonic Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We performed immunoprecipitation and immunoblot analyses of colon tumor tissues, MDSCs, and mouse embryonic fibroblasts to study the expression levels of GNAI1, GNAI2, and GNAI3 and the interactions of GNAI1 and GNAI3 with proteins in the IL6 signaling pathway.
|
30836096 |
2019 |
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
GNAI3 inhibits tumor cell migration and invasion and is post-transcriptionally regulated by miR-222 in hepatocellular carcinoma.
|
25444921 |
2015 |
Degenerative polyarthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Using gene-gene interaction network analysis, relevant core genes, including MET, UBB, GNAI3, and GNA13, were shown to hold a potential relationship with the development of OA in cartilage.
|
29978613 |
2018 |
Ocular albinism, type I
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals.
|
27607449 |
2016 |
Non-alcoholic Fatty Liver Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The dysregulated hepatic lipid metabolism in the NAFLD mouse model was enhanced by GNAI3 knockout, which also provoked worse liver damage.
|
31694365 |
2019 |
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
B6;129 wild-type (control) or mice with disruption of Gnai1, Gnai2, and/or Gnai3 or conditional disruption of Gnai2 in CD11c<sup>+</sup> or epithelial cells were given dextran sulfate sodium (DSS) to induce colitis followed by azoxymethane (AOM) to induce carcinogenesis; some mice were given an antibody against IL6.
|
30836096 |
2019 |
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, transwell assays indicated that GNAI3 inhibits HCC cell migration and invasion.
|
25444921 |
2015 |
Primary malignant neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
We investigated these signaling pathways and the involvement of G protein subunit alpha i1 (GNAI1), GNAI2, and GNAI3 in the development of CAC in mice and humans.
|
30836096 |
2019 |
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These results indicated that down-regulation of GNAI3 might be caused by up-regulation of miR-222 in HCC.
|
25444921 |
2015 |
Auriculocondylar syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
|
22560091 |
2012 |
Auriculocondylar syndrome 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Auriculo-condylar syndrome
|
0.630 |
Biomarker
|
disease |
CTD_human |
|
|
|
Amnesia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
Hysterical amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |
Temporary Amnesia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Differential prevention of morphine amnesia by antisense oligodeoxynucleotides directed against various Gi-protein alpha subunits.
|
11350863 |
2001 |