SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation disease BEFREE Human lymphoblast cells from a male diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. 29602048 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation disease BEFREE Human lymphoblast cells from a male diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, KLF4, LIN28, L-MYC and p53 shRNA. 29902745 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 AlteredExpression disease BEFREE MiR-429 was upregulated and SOX2 and BCL2 were downregulated in the AD mouse model and Aβ-induced mouse cortical neurons. 30264333 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 AlteredExpression disease BEFREE Activation of CB<sub>2</sub> receptor system restores cognitive capacity and hippocampal Sox2 expression in a transgenic mouse model of Alzheimer's disease. 28551012 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation disease BEFREE Human lymphoblast cells from a male patient diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem (iPS) cells employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. 27345793 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation disease BEFREE Human lymphoblast cells from a female patient diagnosed with Alzheimer's disease (AD) possessing the missense mutation TREM2 p.R47H were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. 27789408 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE Human lymphoblast cells from a female and male patient diagnosed with Alzheimer's disease (AD) with different genotypes of a functional copy number variation (CNV) in the AD risk gene CR1 were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. 27789410 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE The number of SOX2(+) NSCs in the DG was significantly increased in NDAN individuals as compared to AD subjects. 27298190 2016