PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 GeneticVariation disease BEFREE Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines. 10400232 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 AlteredExpression disease BEFREE To investigate the role of pleiotropic neuronal and glial cytokines in the regulation of presenilin (PS) gene expression in human neural cells, both presenilin-1 (PS1) and presenilin-2 (PS2) mRNA levels were analysed by Northern blotting in SK-N-SH neuroblastoma, IMR-32 neuroblastoma, NTera2 teratocarcinoma-derived differentiated neurones (NTera2-N) and U-373MG astrocytoma cells following exposure to proinflammatory cytokines (TNF-alpha, IFN-gamma, or IL-1beta), anti-inflammatory cytokines (IL-10 or TGF-beta1), dibutyryl cyclic AMP or phorbol 12-myristate 13-acetate (PMA). 10632899 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 GeneticVariation disease BEFREE Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. 9507958 1998