Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII.
Using an established melanoma mouse model, we evaluated E17K, E40K, and Q79K mutations in AKT1, AKT2, and AKT3 and show that mice harboring tumors expressing AKT1<sup>E17K</sup> had the highest incidence of brain metastasis and lowest mean survival.
The association of a depressive disorder and remission rates with polymorphisms rs334558 in the <i>GSK3B</i> gene and rs1130214 and rs3730358 in the <i>AKT1</i> gene was evaluated with a chi-square test.
None of the effects reported in earlier studies were statistically significant, including the association between rs3803300 and BD without any psychotic symptoms, rs3803300 and mood-congruent psychosis, rs3803300 and the combined groups, as well as the association between the haplotypes formed by rs3730358 and rs1130214 and risk for BD.
The A allele of <i>AKT1</i>:rs1130214 (OR, 2.095; <i>p</i>=0.011) and the C allele of <i>NQO2</i>:rs2071002 (OR, 1.632; <i>p</i>=0.045) were associated with HER2-positive breast cancer.
None of the effects reported in earlier studies were statistically significant, including the association between rs3803300 and BD without any psychotic symptoms, rs3803300 and mood-congruent psychosis, rs3803300 and the combined groups, as well as the association between the haplotypes formed by rs3730358 and rs1130214 and risk for BD.
Genetic variants of AKT1 have been shown to influence brain function of Parkinson's disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese.
None of the other examined polymorphisms (<i>AKT1</i> rs1130214, <i>AKT1</i> rs3730358, <i>mTOR</i> rs1883965) revealed significant association with BC.
None of the other examined polymorphisms (<i>AKT1</i> rs1130214, <i>AKT1</i> rs3730358, <i>mTOR</i> rs1883965) revealed significant association with BC.
None of the other examined polymorphisms (<i>AKT1</i> rs1130214, <i>AKT1</i> rs3730358, <i>mTOR</i> rs1883965) revealed significant association with BC.
Genetic variants of AKT1 have been shown to influence brain function of Parkinson's disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese.
Allelic association was detected at rs1130214 (chi(2)=6.28, P=0.012) and at rs11847866 (chi(2)=4.64, P=0.031), although the remaining single nucleotide polymorphisms did not show allelic association with schizophrenia.
None of the effects reported in earlier studies were statistically significant, including the association between rs3803300 and BD without any psychotic symptoms, rs3803300 and mood-congruent psychosis, rs3803300 and the combined groups, as well as the association between the haplotypes formed by rs3730358 and rs1130214 and risk for BD.
In conclusion, our findings suggest that <i>PIK3CA</i> rs6443624, <i>AKT1</i> rs2498801, <i>AKT1</i> rs1130233, as well <i>mTOR</i> rs2295080 polymorphism may be related to bladder cancer development in a sample of Iranian population.
In H. pylori-negative individuals, the AKT rs1130233 GA and (GA+AA) genotypes were related to increased risk of atrophic gastritis (AG; P = 0.012, P = 0.024).
In conclusion, our findings suggest that <i>PIK3CA</i> rs6443624, <i>AKT1</i> rs2498801, <i>AKT1</i> rs1130233, as well <i>mTOR</i> rs2295080 polymorphism may be related to bladder cancer development in a sample of Iranian population.
In conclusion, our findings suggest that <i>PIK3CA</i> rs6443624, <i>AKT1</i> rs2498801, <i>AKT1</i> rs1130233, as well <i>mTOR</i> rs2295080 polymorphism may be related to bladder cancer development in a sample of Iranian population.
Here, we report that an AKT1 variant (rs1130233) previously associated with AKT1 protein expression, prefrontal function and schizophrenia, affects human MTL structure and memory function.
SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0.011 and p = 0.045; AKT1: p = 0.004 and p = 0.019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0.002 and p = 0.004 for the first and second cohorts, respectively).