|
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 |
|
rs104893877
|
|
|
0.040 |
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 |
|
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 |
|
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The 12-month A53T-transgenic mouse displayed hyperactive movement and anxiolytic-like behaviors with α-synuclein aggregation in midbrain.
|
27965467 |
2017 |
|
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 |
|
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 |
|
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 |