|
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 |
|
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 |
|
rs778899140
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro).
|
27058446 |
2016 |
|
rs875989839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro).
|
27058446 |
2016 |
|
rs27072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, a significant association was found for the rs27072 polymorphism and symptoms of inattention and hyperactivity/impulsivity.
|
18165969 |
2008 |
|
rs5742905
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs9990174
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs771138120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, mice expressing the INK4-insensitive, hyperactive Cdk6(R31C) allele displayed excess proliferation in LSK and thymocytes.
|
21508411 |
2011 |
|
rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In open field test, N279K mice showed hyperactivity in locomotion and rearing.
|
16219306 |
2005 |
|
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 |
|
rs206936
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs539815495
|
|
|
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 |