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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.
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12573870 |
2003 |
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rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In open field test, N279K mice showed hyperactivity in locomotion and rearing.
|
16219306 |
2005 |
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rs63751438
|
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|
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 |
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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 |
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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 |
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rs104893878
|
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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 |
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rs104895321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
|
24656624 |
2014 |
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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 |
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rs1051266
|
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|
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 |
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rs1057518011
|
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|
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 |
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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 |
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rs1057519866
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|
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 |
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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 |
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rs10938397
|
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|
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 |
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rs1156401234
|
|
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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 |
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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 |
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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 |
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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 |
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rs121909731
|
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0.010 |
GeneticVariation |
BEFREE |
In conclusion, the GDH-S445L mutation confers hyperactivity to this enzyme due to higher sensitivity to ADP allosteric activation.
|
28911206 |
2017 |
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rs121912436
|
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|
0.010 |
GeneticVariation |
BEFREE |
To elucidate whether the autophagy/lysosome pathway was either impaired or hyperactive in motor neurons, chloroquine was administered to 3-mo-old G85R SOD1YFP mice to block lysosomal hydrolysis.
|
25024188 |
2014 |
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rs121912438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the rapid age-dependent decline in numbers of functional motor units in fast-twitch muscles of the SOD1(G93A) transgenic mice was dramatically reduced by the functional hyperactivity in the partially denervated muscles and, that these muscles comprised a significantly higher component of type IIA and type IID/X fibers than those muscles that were innervated by nerves in intact spinal roots.
|
19879358 |
2010 |
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rs121912678
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that a key determinant for ALK2(R206H) hyperactivity is a functional type II receptor.
|
22174087 |
2012 |
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rs121912703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation.
|
16958600 |
2006 |
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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 |
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rs121918626
|
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|
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 |