|
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These results indicate a possible role of the A53T alpha-Syn mutation in anxiety-like and hyperactive behaviors in a PD mouse model, suggesting that these behaviors might be comorbid with this disease.
|
20077428 |
2010 |
|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SNPs rs6269, rs4633, rs4818, and rs4680, tagging the common putative functional COMT haplotypes, were genotyped in 435 adult subjects with a clinical diagnosis of ADHD and 383 controls and analyzed for association with ADHD and the hyperactivity/impulsivity and inattention dimensions from the Adult ADHD Self-Report Scale (ASRS).
|
18802928 |
2009 |
|
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Thus, expression of A</span>53T mutant human alpha-synuclein in mice results in adult-onset hyperactivity associated with D1 receptor and dopamine transporter-mediated alterations in dopamine neurotransmission.
|
16230020 |
2006 |
|
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 |
|
rs397515323
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have previously shown the R158H mutation confers PDK3 enzyme hyperactivity.
|
27388934 |
2016 |
|
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 |
|
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 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 |
|
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 |
|
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 |
|
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 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results indicate an association of hyper-tHcy and MTHFR C677T mutation with hypertension.
|
18855261 |
2008 |
|
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 |
In open field test, N279K mice showed hyperactivity in locomotion and rearing.
|
16219306 |
2005 |
|
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 |
|
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 |
|
rs121918626
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By comparing the electrophysiological properties in inhibitory and excitatory iPSC-derived neurons from these pairs, we found the K1270T mutation causes cell type-specific alterations in sodium current density and evoked firing, resulting in hyperactive neural networks.
|
31786370 |
2020 |
|
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 |
|
rs121913470
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HER2-L755S mutation induces hyperactive MAPK and PI3K-mTOR signaling, leading to resistance to HER2 tyrosine kinase inhibitor treatment.
|
31135266 |
2019 |
|
rs25531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, both the rs6191 and rs25531 SNPs were significantly associated with the attention deficit factor (P = 0.006, P = 0.003, respectively) but not with the hyperactivity/impulsivity factor in the Swanson, Nolan and Pelham-IV Questionnaire (SNAP-IV) scale.
|
30707907 |
2019 |
|
rs539815495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, impaired mitophagy in several of the most common pathogenic Parkin variants could be rescued both by naturally occurring (p.V224A) and structure-guided designer (p.W403A; p.F146A) hyperactive Parkin variants.
|
30994895 |
2019 |
|
rs6191
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, both the rs6191 and rs25531 SNPs were significantly associated with the attention deficit factor (P = 0.006, P = 0.003, respectively) but not with the hyperactivity/impulsivity factor in the Swanson, Nolan and Pelham-IV Questionnaire (SNAP-IV) scale.
|
30707907 |
2019 |
|
rs12765063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic studies in seven independent human populations illustrate that a CREM promoter variant at rs12765063 is associated with impulsivity, hyperactivity and addiction-related phenotypes.
|
28439100 |
2018 |
|
rs1481318368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we reported transgenic mice with overexpressing human A53T alpha-synuclein, as well as WT mice with high dietary iron displayed hyperactive motor coordination and impaired colonic motility, compared with those with basal dietary iron.
|
29681846 |
2018 |
|
rs2281997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The variant allele (T) of ENHO rs2281997 was associated with the hyper-LDL cholesterolaemic pattern of dyslipidaemia by K/DOQI.
|
30413149 |
2018 |