|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
|
26917597 |
2016 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
BEFREE |
We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder.
|
12949965 |
2003 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome.
|
30392057 |
2019 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
BEFREE |
Variants in ZNHIT3 have not been identified in patients with PEHO or PEHO-like syndrome in other populations.
|
31048081 |
2020 |
|
PEHO syndrome
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a complete loss of protein function due to premature stop gain was caused by a mutation in exon 12 of CCDC88A.This loss may lead to PEHO phenotype.
|
30392057 |
2019 |
|
PEHO syndrome
|
0.320 |
Biomarker
|
disease |
BEFREE |
As the mouse knockout phenotype mimics the human PEHO phenotype this suggests that loss of CCDC88A is a cause of the PEHO phenotype, and that CCDC88A is essential for multiple aspects of normal human neurodevelopment.
|
26917597 |
2016 |
|
Neoplasm Metastasis
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
We previously reported that GIV/Girdin triggers tumor cell migration by virtue of a C-terminal guanine-nucleotide exchange factor motif that activates Gαi.
|
20974669 |
2011 |
|
Neoplasm Metastasis
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer.
|
29456687 |
2018 |
|
Neoplasm Metastasis
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Gα-interacting vesicle-associated protein (GIV, aka Girdin) is a guanine exchange factor (GEF) for the trimeric G protein Gαi and a bona fide metastasis-related gene that serves as a platform for amplification of tyrosine-based signals via G-protein intermediates.
|
27440794 |
2016 |
|
Neoplasm Metastasis
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
Subsequent work has revealed that expression of the highly specialized C-terminus of GIV undergoes a bipartite dysregulation during oncogenesis-full length GIV with an intact C-terminus is expressed at levels ~20-50-fold above normal in highly invasive cancer cells and metastatic tumors, but its C-terminus is truncated by alternative splicing in poorly invasive cancer cells and non-invasive tumors.
|
21546796 |
2011 |
|
Neoplasm Metastasis
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
Here we report the discovery that GIV is a direct target of the transcription factor signal transducer and activator of transcription-3 (STAT3), which is commonly known as a central regulator of tumor metastasis.
|
23066027 |
2012 |
|
Neoplasm Metastasis
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
The expression of Girdin protein was related to histological grade and distant metastasis (P = 0.007 and 0.007, respectively).
|
22714912 |
2012 |
|
Neoplasm Metastasis
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
GIV expression promotes metastasis and disruption of its binding to Gαi blunts the pro-metastatic behavior of cancer cells.
|
28819150 |
2017 |
|
Neoplasm Metastasis
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Galphai3-GIV coupling is essential for cell migration during wound healing, macrophage chemotaxis, and tumor cell migration, indicating that the Galphai3-GIV switch serves to link direction sensing from different families of chemotactic receptors to formation of the leading edge during cell migration.
|
18663145 |
2008 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
In our previous studies, we firstly found Girdin protein was overexpressed in HCC tissues, and it closely correlated to tumor size, T stage, TNM stage and Edmondson-Steiner stage of HCC patients.
|
26743900 |
2016 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
Subsequent work has revealed that expression of the highly specialized C-terminus of GIV undergoes a bipartite dysregulation during oncogenesis-full length GIV with an intact C-terminus is expressed at levels ~20-50-fold above normal in highly invasive cancer cells and metastatic tumors, but its C-terminus is truncated by alternative splicing in poorly invasive cancer cells and non-invasive tumors.
|
21546796 |
2011 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
Tumor 2 had an interstitial del(2)(p16p23) deletion causing the fusion of CCDC88A and ALK.
|
25795305 |
2015 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
Real-time PCR expression profile depicts that mature form of both miRNAs is significantly overexpressed in low-grade (GII) tumor tissue samples compared to control and high-grade (GIII and GIV) tissue samples.
|
27900675 |
2017 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
Swiss mice were divided into six groups, according to tumor forms: 1) ascitic model, GI (Control; 0.9% saline), GII (S<sub>180</sub>asc) and GIII (S<sub>180</sub>asc/HdCL/14 days); 2) solid model, GIV (Control; 0.9% saline), GV (S<sub>180</sub>sol) and GVI (S<sub>180</sub>sol/HdCL/10 days).
|
29079220 |
2018 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
The findings indicated that a significantly decreased risk of SCCHN was associated with the ADPRT 762Ala/Ala genotype (adjusted odds ratio [OR], 0.51; 95% confidence interval [95% CI], 0.27-0.97) and the combined ADPRT 762Ala/Val and Ala/Ala genotypes (OR, 0.79; 95% CI; 0.63-1.00) compared with the ADPRT 762Val/Val genotype, but no altered risk was associated with the XRCC1 Arg399Gln or APE Asp148Glu polymorphisms, and no evidence of interactions was observed between the 3 selected SNPs and age, sex, smoking status, drinking status, or tumor site.
|
17614107 |
2007 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
Since APE/Ref-1 expression level and intracellular localization is variable in different types of tumors and frequently found to be different in non-malignant compared to the corresponding malignant human tissue, the protein is thought to be a diagnostic and prognostic tumor marker.
|
14599768 |
2003 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
A prospective, exploratory biomarker study conducted on a cohort of 56 patients with stage II colorectal cancer revealed a significant correlation between GIV-fl expression in tumor epithelium and shortened metastasis-free survival.
|
20974669 |
2011 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
The forward feedback regulation we describe here between GIV and STAT3 may have profound therapeutic implications for cancer and epithelial regeneration/repair and could help invent novel approaches in treating and prognosticating cancer.
|
23066027 |
2012 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
Apurinic/apyrimidinic endonuclease-1/redox effector factor 1 (APE/Ref-1) has been uncovered elevated in various types of cancer, including HCC.
|
25109342 |
2014 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
The relevance of this new paradigm in cancer and other disease states and the pros and cons of targeting the GIV●G protein interface are discussed.
|
26224586 |
2015 |