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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.
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31786370 |
2020 |
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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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rs121913470
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|
|
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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rs25531
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|
|
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 |
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rs539815495
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|
|
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 |
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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 |
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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 |
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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 |
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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 |
|
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 |
|
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 |
|
rs121909731
|
|
|
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 |
|
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 |
|
rs1334791875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ClpB-A</span>328V</span> mutant in contrast has very high ATPase activity and exhibits cellular toxicity on its own, qualifying it as novel hyperactive ClpB mutant.
|
28275610 |
2017 |
|
rs1365502141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ClpB-A</span>328V</span> mutant in contrast has very high ATPase activity and exhibits cellular toxicity on its own, qualifying it as novel hyperactive ClpB mutant.
|
28275610 |
2017 |
|
rs1541665
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, we also found rs1541665 involvement in ADHD-I subtype (OR (95% CI) = 2.341(1.713, 3.282), and Hyperactive index score (P = 0.005) in combined samples.Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactionsof rs1541665 collaboratingwith maternal stress pregnancy (Pmul = 0.021) and blood lead (Padd = 0.017) to modify ADHD risk.
|
29176790 |
2017 |
|
rs1801131
|
|
|
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 |
|
rs1801133
|
|
|
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 |
|
rs2236225
|
|
|
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 |
|
rs2284411
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GRIN2B rs2284411 C/C genotype showed significantly better treatment response as assessed by ADHD-RS inattention ( p=0.009) and CGI-I scores ( p=0.009), and there was a nominally significant association in regard to ADHD-RS hyperactivity-impulsivity ( p=0.028) and total ( p=0.023) scores, after adjusting for age, sex, IQ, baseline Clinical Global Impression-Severity (CGI-S) score, baseline ADHD-RS total score, and final MPH dose.
|
27624150 |
2017 |
|
rs2303380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the group composed by predominantly hyperactive/impulsive and combined presentation, the presence of LPHN3-rs6551665 G allele was related to increased ADHD risk only in individuals carrying the TTC12-rs2303380 AA genotype (p=0.026).
|
28624582 |
2017 |
|
rs2944366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In our study, rs2944366 was consistently shown to be associated with the ADHD risk in the dominant model (odds ratio [OR]=0.554, 95% confidence interval [CI]=0.404-0.760), and nominally associated with Hyperactive index score (P=0.027).
|
28442423 |
2017 |
|
rs3746544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results revealed significant differential associations between two a priori loci and ADHD phenotypes, rs6296 in HTR1B with inattention and rs3746544 in SNAP-25 with hyperactivity-impulsivity.
|
28512748 |
2017 |
|
rs566794487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The previously characterized L407F mutant allele of <i>Arabidopsis</i> cry1 is biologically hyperactive and seems to mimic the ATP-bound state of cry1, but the reason for this phenotypic change is unclear.
|
28634231 |
2017 |