PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
AlteredExpression
|
disease |
BEFREE |
Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology.
|
23595882 |
2013 |
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology.
|
23595882 |
2013 |
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology.
|
23595882 |
2013 |
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology.
|
23595882 |
2013 |
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology.
|
23595882 |
2013 |
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
PARKINSONISM WITH SPASTICITY, X-LINKED
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
|
23595882 |
2013 |
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
|
23595882 |
2013 |
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
|
23595882 |
2013 |
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
|
15746149 |
2005 |
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.
|
11782983 |
2002 |
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Mental Retardation, X-Linked, with Epilepsy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
Downregulated microRNA‑133a induces HUVECs injury: Potential role of the (pro) renin receptor in angiotensin II‑dependent hypertension.
|
31524252 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
Aortic constriction induces hypertension and cardiac hypertrophy via (pro)renin receptor activation and the PLC‑β3 signaling pathway.
|
30431106 |
2019 |
Hypertensive disease
|
0.300 |
AlteredExpression
|
group |
BEFREE |
Soluble (pro)renin receptor [s(P)RR], which is generated from cleavage of (P)RR, can be detected in plasma and urine. s(P)RR levels can reflect the severity of some diseases, such as renal lesions, gestational diabetes mellitus or hypertension, and obstructive sleep apnea syndrome.
|
29660382 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
<b>NEW & NOTEWORTHY</b> PRR knockdown in PVN neurons attenuates the development of DOCA-salt hypertension and autonomic dysfunction through a decrease in ERK1/2 activation in the PVN and RVLM during hypertension.
|
30925093 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
A Poisson regression model showed that histories of diabetes and hypertension were associated with a larger number of teeth with a PPD ≥5 mm (diabetes: prevalence rate ratio [PRR] 1.36, 95% confidence interval [CI] 1.00-1.85; hypertension: PRR 1.27, 95% CI 1.02-1.58) after adjusting for potential periodontal risk factors.
|
31217373 |
2019 |
Hypertensive disease
|
0.300 |
AlteredExpression
|
group |
BEFREE |
The aim of the present study was to explore the mechanisms of depression and hypertension by examining the expression and interaction of renin/prorenin receptor (PRR) and heme oxygenase 1 (HO-1) in vascular endothelial cells.
|
31410134 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
In addition, the (P)RR has been reported to contribute to the pathogenesis of diseases such as fibrosis, hypertension, pre-eclampsia, diabetic microangiopathy, acute kidney injury, cardiovascular disease, cancer and obesity.
|
31164719 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
Herein, we review PRR function in health and disease, with particular emphasis on hypertension and the metabolic syndrome.
|
30819554 |
2019 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
Here, we examined the expression level and cellular distribution of PRR in the SFO of postmortem human brains to assess its association with the pathogenesis of human hypertension.
|
29351470 |
2018 |
Hypertensive disease
|
0.300 |
Biomarker
|
group |
BEFREE |
This review concludes with a unifying concept proposing the blood origin of angiotensin in the brain, possibly resulting in increased levels following blood-brain barrier disruption (e.g. due to hypertension), and suggesting that interfering with either intracellular renin or the (pro)renin receptor has consequences in an RAS-independent manner.
|
29712882 |
2018 |
Hypertensive disease
|
0.300 |
AlteredExpression
|
group |
BEFREE |
In ANG II-induced hypertension, there is increased expression of the prorenin receptor (PRR) in the collecting duct (CD), which has been implicated in the stimulation of the sodium transporters and resultant hypertension.
|
28814438 |
2017 |