|
rs10938397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene (GNPDA2) were associated with inattention, whereas markers in the mitogen-activated protein kinase 5 gene (MAP2K5) and in the cell adhesion molecule 2 gene (CADM2) were associated with hyperactivity.
|
23533005 |
2013 |
|
rs945270
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results indicate that rs945270 might contribute to the genetic risk of ADHD partly through its effects on hyperactivity and reward processing in girls.
|
28433093 |
2017 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subjects with either C/T or C/C (n = 16) genotypes showed a three-fold greater improvement than T/T MDR1 C3435T genotype (n = 6) (mean decrease of 15.1 +/- 12.6, or 50.7% from baseline, versus 4.5 +/- 5.1, or 15.6% from baseline) in parent-rated ABC Hyperactivity scores over 8 weeks (p = 0.03).
|
20166790 |
2010 |
|
rs4291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ACE rs4291 TT genotype, which has been associated with HPA axis hyperactivity and higher levels of serum angiotensin converting enzyme (ACE), predicted acute stress response and reports of physician-diagnosed CVD in a national sample following collective stress.
|
23055331 |
2012 |
|
rs4291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity and might therefore represent a common pathophysiologic link for unipolar depression and cardiovascular disease.
|
16924268 |
2006 |
|
rs121912703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation.
|
16958600 |
2006 |
|
rs121912678
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that a key determinant for ALK2(R206H) hyperactivity is a functional type II receptor.
|
22174087 |
2012 |
|
rs587776625
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The N251K polymorphism does not represent a genetic factor to explain the alpha(2A)-adrenoceptor hyperactivity in the brains of depressed suicide victims.
|
16333651 |
2006 |
|
rs1800544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C-1291G polymorphism (rs1800544) in the promoter region of the alpha(2A)-adrenoceptor gene (ADRA2A) has been associated with attention deficit and hyperactivity in clinical samples.
|
19922756 |
2010 |
|
rs1231783932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although hyperactivity and hypersynchronicity were respectively detected in mice expressing the PS2-N141I or the APP Swedish mutant alone, the increase in cross-frequency coupling specifically characterized the 6-month-old PS2APP mice, just before the surge of the cognitive decline.
|
27889678 |
2017 |
|
rs1334791875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ClpB-A</span>328V</span> mutant in contrast has very high ATPase activity and exhibits cellular toxicity on its own, qualifying it as novel hyperactive ClpB mutant.
|
28275610 |
2017 |
|
rs1365502141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ClpB-A</span>328V</span> mutant in contrast has very high ATPase activity and exhibits cellular toxicity on its own, qualifying it as novel hyperactive ClpB mutant.
|
28275610 |
2017 |
|
rs387906846
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80356537
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The α3(+/D801Y) mice displayed hyperactivity, increased sensitivity to chemically induced epileptic seizures and cognitive deficits.
|
27549929 |
2016 |
|
rs113488022
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expression of hyperactive RAF kinases, such as the oncogenic B-RAF-V600E mutant, in normal human cells triggers a proliferative arrest that blocks tumor formation.
|
31371485 |
2019 |
|
rs113488022
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Additionally, while over-expression of mutant BRAF(V600E) increased both Mcl-1L and Mcl-1S expression, inhibition of hyperactive BRAF signalling resulted in decreased Mcl-1L expression.
|
24118207 |
2013 |
|
rs113488022
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Fourty percent of all melanomas harbor a mutation in the signaling adaptor BRAF (V600E) that results in ERK hyperactivity as an oncogenic driver.
|
29983861 |
2018 |
|
rs113488022
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In colorectal cancer, BRAF V600E was described to functionally cooperate with RAC1b, a hyperactive splice variant of the small GTPase RAC1, to sustain cell survival.
|
23482591 |
2013 |
|
rs121913377
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In colorectal cancer, BRAF V600E was described to functionally cooperate with RAC1b, a hyperactive splice variant of the small GTPase RAC1, to sustain cell survival.
|
23482591 |
2013 |
|
rs121913377
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expression of hyperactive RAF kinases, such as the oncogenic B-RAF-V600E mutant, in normal human cells triggers a proliferative arrest that blocks tumor formation.
|
31371485 |
2019 |
|
rs121913377
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Fourty percent of all melanomas harbor a mutation in the signaling adaptor BRAF (V600E) that results in ERK hyperactivity as an oncogenic driver.
|
29983861 |
2018 |
|
rs121913377
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Additionally, while over-expression of mutant BRAF(V600E) increased both Mcl-1L and Mcl-1S expression, inhibition of hyperactive BRAF signalling resulted in decreased Mcl-1L expression.
|
24118207 |
2013 |
|
rs776423109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This functional consequence of R139W-C3 resulted from the formation of a hyperactive C3 convertase.
|
22246034 |
2012 |
|
rs914655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We explored association of functional variants in the DA receptor 2 (rs1799732 and rs6278), receptor 4 (exon 3 VNTR and rs914655), and transporter (rs28363170 and rs3836790) with hyperactivity, cognitive deficit, and co-morbid disorders in eastern Indian probands.
|
24585059 |
2014 |