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 |
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 |
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 |
rs1057518644
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
rs1170695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, rs1170695 has been found to be associated with the ADHD risk in the addictive model (OR=1.457, 95%CI=1.173-1.809), while rs9990174 was associated with the Hyperactive index score (P=0.010).
|
28442423 |
2017 |
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 |
rs121908153
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated global and myeloid cell-specific conditional mutant Nlrp3 knock-in mice expressing the D301N Nlrp3 mutation (ortholog of D303N in human NLRP3), resulting in a hyperactive NLRP3.
|
23813842 |
2014 |
rs121908672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To test whether increased Wnt signaling can compensate for the defect in periosteal growth caused by Bmpr1a deletion, we have generated compound mutants harboring a hyperactive mutation (A214V) in the Wnt receptor Lrp5.
|
28607813 |
2017 |