|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects.
|
16362639 |
2006 |
|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Catechol-O-methyltransferase Val158-Met polymorphism and a response of hyperactive-impulsive symptoms to methylphenidate: A replication study from South Korea.
|
24763183 |
2014 |
|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder.
|
23643763 |
2013 |
|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our data suggested an association between COMT Val58Met polymorphism and hyperactivity symptoms in Egyptian children with ASD.
|
23643763 |
2013 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results indicate an association of hyper-tHcy and MTHFR C677T mutation with hypertension.
|
18855261 |
2008 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Data are conflicting concerning risk for ischemic stroke associated with hyperhomocyst(e)inemia (hyper-Hcy) and a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR 677C-->T), which predisposes to hyper-Hcy in vivo.
|
12196644 |
2002 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To decipher the biological functions of LRRK2, including the genes and pathways modulated by LRRK2 kinase activity in vivo, we assayed genome-wide mRNA expression in the brain and peripheral tissues from LRRK2 knockout (KO) and kinase hyperactive G2019S (G2019S) transgenic mice.
|
21972245 |
2012 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further, in dopaminergic neurons derived from LRRK2 G2019S PD patient-induced pluripotent stem cells, we demonstrated that either P110 treatment or expression of Drp1(T595A) reduced mitochondrial impairment, lysosomal hyperactivity and neurite shortening.
|
23813973 |
2013 |
|
rs397515323
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have previously shown the R158H mutation confers PDK3 enzyme hyperactivity.
|
27388934 |
2016 |
|
rs397515323
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found that the R158H mutation confers enzyme hyperactivity and binds with stronger affinity than the wild-type to the inner-lipoyl (L2) domain of the E2p chain of PDC.
|
23297365 |
2013 |
|
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 |
|
rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases.
|
12573870 |
2003 |
|
rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In open field test, N279K mice showed hyperactivity in locomotion and rearing.
|
16219306 |
2005 |
|
rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two-month-old P301S mice displayed a hyperactive profile, as shown by increased swimming speed, enhanced locomotion and exploration of a novel object in the open field.
|
20004218 |
2010 |
|
rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we report behavioral changes in a recently developed P301S mutant tau transgenic mouse, including disinhibition-like behavior in the elevated plus maze and hyperactivity in the open field arena.
|
27521751 |
2016 |
|
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 |
|
rs104893878
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our present data indicate that mutant (A30P) α-syn is directly implicated in reduction of dopamine signaling in OB interneurons, which mediates further alterations in brain regions without transgenic expression leading functionally to a hyperactive response.
|
21767644 |
2011 |
|
rs104895321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
|
24656624 |
2014 |
|
rs104895358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.
|
27899390 |
2016 |
|
rs1051266
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225.
|
28250422 |
2017 |
|
rs1057518011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p.G66R TMEM240 variant from Colombia), demonstrating that, in addition to cerebellar ataxia, not only hypokinetic features (hypomimia, bradykinesia), but also hyperkinetic movement disorders (poly-mini-myoclonus, proximal myoclonus) are a recurrent part of the phenotypic spectrum of SCA21.
|
30522958 |
2019 |
|
rs1057519475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of an intact N-terminal activation domain in the truncated proteins p.Y47X and p.Q106X may underlie their associated transactivation hyperactivity by a gain-of-function mechanism involving dysregulated protein-protein interactions.
|
25786029 |
2015 |
|
rs1057519866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, expression of green fluorescent protein (GFP)-fused wild type or hyperactive mutant (R367Q) cN-II increased the activity and also decreased the sensitivity to nucleoside analogues.
|
25998135 |
2015 |
|
rs1060504185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, mice expressing the INK4-insensitive, hyperactive Cdk6(R31C) allele displayed excess proliferation in LSK and thymocytes.
|
21508411 |
2011 |