|
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 |
|
rs63750215
|
|
|
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 |
|
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 |
|
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder.
|
23643763 |
2013 |
|
rs750257282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder.
|
23643763 |
2013 |
|
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 |
|
rs2283265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and both DAT1 9/10 VNTR (ηp(2)=.105) and DRD2 rs2283265 (ηp(2)=.069) were associated with teacher-rated inattention.
|
24780147 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs5742912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
|
21917531 |
2012 |
|
rs202064075
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functionally, these regulatory modifications partly counterbalance the reduced surface expression by rendering V170M hyperactive.
|
24271511 |
2014 |
|
rs363043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further analyses nevertheless showed the presence of highly significant associations of the rs363043 (CT) genotype, localized in the intron 1 region that affects the transcription factor binding sites of the SNAP-25 gene, with both increasing CARS (p=0.001) and hyperactivity scores (p=0.006).
|
21497654 |
2011 |
|
rs324981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further evidence for the association of the NPSR1 gene A/T polymorphism (Asn107Ile) with impulsivity and hyperactivity.
|
25744621 |
2015 |
|
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 |
|
rs1156401234
|
|
|
0.010 |
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 |
|
rs63750416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, N296H animals displayed behavioural anomalies such as hyperactivity, increased time in the open arms of the elevated plus maze and increased immobility during the tail suspension test.
|
28233851 |
2017 |
|
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 |
|
rs75634836
|
|
|
0.010 |
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 |
|
rs6313
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
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 |