|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
Biomarker
|
disease |
MGD |
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
|
27671791 |
2016 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw.
|
25772936 |
2015 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw.
|
25772936 |
2015 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw.
|
25772936 |
2015 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw.
|
25772936 |
2015 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
|
20583178 |
2010 |
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
Here we demonstrate that the development of angiogenesis inhibitor-induced hypertension and albuminuria is solely dependent on the ETA receptor and that an upregulation in PGI2 plays a previously unidentified role in the deleterious effects of angiogenesis inhibitors.
|
31593221 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
The class B glucagon-like peptide-1 (GLP-1) G protein-coupled receptor is a major target for the treatment of type 2 diabetes and obesity.
|
29466332 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in <i>MTNR1B</i>, which encodes the melatonin receptor MT<sub>2</sub>, a G protein-coupled receptor (GPCR), are associated with an increased risk of type 2 diabetes (T2D).
|
30154102 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
New insights into G protein coupled receptor regulation of glucose metabolism by β-cells, skeletal muscle and liver hepatocytes identify GPRC6A as a potential therapeutic target for treating type 2 diabetes mellitus (T2D).
|
29684031 |
2018 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
These findings highlight the role of endothelin-1 in driving biventricular remodeling secondary to RV hypertension and suggest that early therapy with an endothelin-1 receptor blocker may be beneficial in attenuating biventricular remodeling but that late therapy is also effective.
|
29446710 |
2018 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
G<sub>s</sub>-coupled GPCR signalling is regulated by G protein-coupled receptor kinases (GRK) and arrestin proteins, and dysregulation of Gs/GPCR signalling is thought play a role in the development of hypertension, which may be a consequence of enhanced GRK2 and/or arrestin expression.
|
30075183 |
2018 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
The present study show that hypertension yet prevail after gastric bypass surgery and the ET(A) receptor antagonist BQ123 may be a useful tool in reducing blood pressure in obese hypertensive patients.
|
29947537 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
Free Fatty Acid receptor 4 (FFA4), also known as GPR120, is a G-protein-coupled receptor (GPCR) responsive to long-chain fatty acids that is attracting considerable attention as a potential novel therapeutic target for the treatment of type 2 diabetes mellitus (T2DM).
|
28734639 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
The glucagon-like peptide-1 receptor (GLP-1R) is a class B G protein-coupled receptor that is a major therapeutic target for the treatment of type 2 diabetes.
|
28363772 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
GPR120 (FFAR4) is a fatty acid sensing G protein coupled receptor (GPCR) that has been identified as a target for possible treatment of type 2 diabetes.
|
28105282 |
2017 |
|
Hypertensive disease
|
0.600 |
AlteredExpression
|
group |
BEFREE |
G-protein coupled receptor (GPCR) mediated activation of the MAPK signalling cascade is a key pathway in the induction of hypertrophic remodelling of the heart - a response to pathological cues including hypertension and myocardial infarction.
|
28412414 |
2017 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
Furthermore, the DDAH1 and COL18A1 genes were associated with systolic BP change (P < 1.00 × 10(-6) and P = 4.00 × 10(-6), respectively), while EDNRA was associated with hypertension incidence (P = 2.39 × 10(-4)).
|
25424718 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
There is now considerable literature demonstrating a link between inhibitory guanine nucleotide-binding protein (G protein) and G protein-coupled receptor (GPCR) signaling in insulin-responsive tissues and the pathogenesis of obesity and T2DM.
|
24946790 |
2014 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
These include the contribution of variants of the regulator of G protein signaling (RGS) protein to hypertension; the role variants of the activator of G protein signaling (AGS) proteins to phenotypes (such as the type III AGS8 variant to hypoxia); the contribution of G protein-coupled receptor kinase (GRK) proteins, such as GRK4, in disorders such as hypertension.
|
25150869 |
2014 |
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
In contrast, females are relatively protected from high blood pressure and kidney damage via increased ET(B) versus ET(A) receptor function.
|
22372527 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
Melatonin receptor 1B (MTNR1B) belongs to the seven-transmembrane G protein-coupled receptor superfamily involved in insulin secretion, which has attracted considerable attention as a candidate gene for type 2 diabetes (T2D) since it was first identified as a loci associated with fasting plasma glucose level through genome wide association approach.
|
23226241 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.600 |
Biomarker
|
disease |
BEFREE |
G-protein-coupled receptor (GPR) 119 is involved in glucose-stimulated insulin secretion (GSIS) and represents a promising target for the treatment of type 2 diabetes as it is highly expressed in pancreatic β-cells.
|
20816753 |
2010 |