|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
QT interval feature (observable entity)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.
|
29213071 |
2017 |
|
response to bronchodilator
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
|
26634245 |
2015 |
|
Malignant Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Importantly, the Cancer Genome Atlas AML cohort reveals that DOCK5/ 8 levels are correlated with MBD3 and KDM6A, and DOCK5/ 8 expression is significantly increased in patients who are MBD3 low and KDM6A high with a poor survival.
|
30668141 |
2019 |
|
Primary malignant neoplasm
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Importantly, the Cancer Genome Atlas AML cohort reveals that DOCK5/ 8 levels are correlated with MBD3 and KDM6A, and DOCK5/ 8 expression is significantly increased in patients who are MBD3 low and KDM6A high with a poor survival.
|
30668141 |
2019 |
|
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.<b>Conclusions:</b> Analysis of ASEs in HPV-negative HNSCC identifies multiple alterations likely related to carcinogenesis, including an oncogenic DOCK5 variant.<i>Clin Cancer Res; 24(20); 5123-32.©2018 AACR</i>.
|
29945995 |
2018 |
|
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.<b>Conclusions:</b> Analysis of ASEs in HPV-negative HNSCC identifies multiple alterations likely related to carcinogenesis, including an oncogenic DOCK5 variant.<i></i>.
|
29945995 |
2018 |
|
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.<b>Conclusions:</b> Analysis of ASEs in HPV-negative HNSCC identifies multiple alterations likely related to carcinogenesis, including an oncogenic DOCK5 variant.<i>Clin Cancer Res; 24(20); 5123-32.©2018 AACR</i>.
|
29945995 |
2018 |
|
Tumor Cell Invasion
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Collectively, our work identifies DOCK5 as a key regulator of epithelial invasion and metastasis, and demonstrates that suppression of DOCK5 by GIT2 represents a previously unappreciated mechanism for coordination of Rho and Rac GTPases.
|
27669437 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
MBD3/NuRD loss participates with KDM6A program to promote DOCK5/8 expression and Rac GTPase activation in human acute myeloid leukemia.
|
30668141 |
2019 |
|
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Upregulation of MLK3 and PLD1, genes downstream of CDC42 in the mitogen-activated protein kinase and mammalian target of rapamycin pathways and the inverse correlation of CDC42EP4 and DOCK5 transcript counts with FEV<sub>1</sub>/FVC ratio together support a role of CDC42 in the T<sub>H</sub>1 polarization and pulmonary function deficits found in patients with obesity-related asthma.
|
28479334 |
2018 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We identified a novel candidate oncogenic DOCK5 variant confirmed using qRT-PCR in a separate primary tumor validation set.
|
29945995 |
2018 |
|
Carcinogenesis
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.<b>Conclusions:</b> Analysis of ASEs in HPV-negative HNSCC identifies multiple alterations likely related to carcinogenesis, including an oncogenic DOCK5 variant.<i></i>.
|
29945995 |
2018 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.<b>Conclusions:</b> Analysis of ASEs in HPV-negative HNSCC identifies multiple alterations likely related to carcinogenesis, including an oncogenic DOCK5 variant.<i></i>.
|
29945995 |
2018 |
|
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Collectively, our work identifies DOCK5 as a key regulator of epithelial invasion and metastasis, and demonstrates that suppression of DOCK5 by GIT2 represents a previously unappreciated mechanism for coordination of Rho and Rac GTPases.
|
27669437 |
2017 |
|
Osteoporosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we characterized the mechanism of inhibition of human DOCK5 by C21, a small molecule that inhibits mouse Dock5 in cells and blocks bone degradation in mice models of osteoporosis.
|
29089502 |
2017 |
|
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings highlight the potential role of DOCK5 in human obesity and illustrate a novel approach for analysis of the contribution of VNTRs to disease susceptibility through association studies.
|
22595969 |
2012 |
|
Obesity, Morbid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We have developed a novel VNTR association method named VNTRtest, suitable for association analysis of multi-allelic loci with binary and quantitative outcomes, and have used this approach to show significant association of the DOCK5 VNTRs with childhood and adult severe obesity (P(empirical)= 8.9 × 10(-8) and P= 3.1 × 10(-3), respectively) which we estimate explains ~0.8% of the phenotypic variance.
|
22595969 |
2012 |