|
Kabuki make-up syndrome
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Using whole-exome sequencing, we identified a mutation in RAP1A that was converted to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutation in RAP1B in a second individual with a KS-like phenotype.
|
26280580 |
2015 |
|
Kabuki make-up syndrome
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using whole-exome sequencing, we identified a mutation in RAP1A that was converted to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutation in RAP1B in a second individual with a KS-like phenotype.
|
26280580 |
2015 |
|
Hyperoxaluria
|
0.200 |
Biomarker
|
disease |
RGD |
Apocynin-treatment reverses hyperoxaluria induced changes in NADPH oxidase system expression in rat kidneys: a transcriptional study.
|
23091645 |
2012 |
|
Myocardial Reperfusion Injury
|
0.200 |
Therapeutic
|
phenotype |
RGD |
New targets of urocortin-mediated cardioprotection.
|
20501665 |
2010 |
|
Obesity
|
0.140 |
Biomarker
|
disease |
BEFREE |
As hepatic steatosis and obesity have been related to increased liver cancer in mice and humans, we set out to address whether RAP1 deficiency resulted in increased liver cancer upon chemical liver carcinogenesis.
|
30307978 |
2018 |
|
Obesity
|
0.140 |
Biomarker
|
disease |
BEFREE |
(2013) now extend this link, demonstrating that deletion of the telomere binding protein RAP1 leads to obesity and insulin resistance.
|
23809762 |
2013 |
|
Obesity
|
0.140 |
Biomarker
|
disease |
BEFREE |
Gene expression analyses of liver and visceral white fat from Rap1-deficient mice before the onset of obesity show deregulation of metabolic programs, including fatty acid, glucose metabolism, and PPARα signaling.
|
23791526 |
2013 |
|
Obesity
|
0.140 |
Biomarker
|
disease |
BEFREE |
Nontelomeric role for Rap1 in regulating metabolism and protecting against obesity.
|
23791522 |
2013 |
|
Obesity
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
|
Schizophrenia
|
0.120 |
GeneticVariation
|
disease |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
Schizophrenia
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Since allelic variants of human PLXNA2 and RAP1 associate with schizophrenia, our studies identify a biochemical pathway important for brain development and mental health.
|
29320740 |
2018 |
|
Schizophrenia
|
0.120 |
Biomarker
|
disease |
BEFREE |
Rapgef2 and Rapgef6 define a subfamily of guanine nucleotide exchange factors for Rap1, characterized by possession of the Ras/Rap-associating domains and implicated in the etiology of schizophrenia.
|
28917843 |
2017 |
|
Osteoporosis
|
0.110 |
Biomarker
|
disease |
BEFREE |
We explored the effect of microRNA-182-5p (miR-182-5p) on osteoblast proliferation and differentiation in OP rats after alendronate (ALN) treatment by targeting adenylyl cyclase isoform 6 (ADCY6) through the Rap1/mitogen-activated protein kinase (MAPK) signaling pathway.
|
30413613 |
2018 |
|
Osteoporosis
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
|
20548944 |
2010 |
|
Osteoporosis
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
|
20548944 |
2010 |
|
Tumor Cell Invasion
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Rap1 activator (8-pCPT-2'-O-Me-cAMP) and inhibitor (ESI-09 and farnesylthiosalicylic acid-amide) treatments could partially rescue invasion and migration of tumor cells.
|
31401046 |
2020 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Mechanistically, Ras and Rap1 cooperate to initiate and sustain ERK signaling, which is activated in many malignancies and is the target of successful therapeutics.
|
29621614 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Ras‑associated protein 1A (Rap1A) is a member of the Ras subfamily of small GTP‑binding proteins and is found to promote metastasis in several types of cancer.
|
31545475 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
White Blood Cell Count procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Ras-associated protein 1(Rap1) is a member of the RAS family of small G proteins and regulates several signal pathways involved in carcinogenesis.
|
31679270 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We have shown that phospholipase Cε (PLCε), an effector of Ras and Rap1 small GTPases, plays pivotal roles in inflammation and inflammation-associated carcinogenesis by augmenting proinflammatory cytokine production from epithelial cells of various organs.
|
30634975 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Functional analysis of these TS-miRs revealed that they regulate important cellular signaling pathways (PI3K-Akt, HIF-1, Ras, Rap1, ErbB, and MAPK signaling pathways), that are involved in gastric carcinogenesis.
|
31275362 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Herein using Rap1 null mice, we provide the genetic evidence that mammalian Rap1 plays a major role in hematopoietic stem cell survival, oncogenesis and response to chemotherapy.
|
31836706 |
2019 |
|
Tumor Cell Invasion
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
We found that increased activation of Rap1a in the retinal pigment epithelium (RPE) reduces oxidative signaling to maintain barrier integrity of the RPE and resist neural sensory retinal angiogenesis from choroidal endothelial cell invasion.
|
31673119 |
2019 |