|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
RNA blot hybridization analysis revealed that pS2 gene was expressed well in two (MKN-45 and KATO-III; derived from poorly differentiated adenocarcinoma) but not in three cell lines (MKN-1, MKN-28 and MKN-74; from well differentiated adenocarcinoma), suggesting that expression of the pS2 gene depends on the state of cell differentiation.
|
2311759 |
1990 |
|
Alzheimer Disease, Early Onset
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin 1 and 2 (PS1 and PS2) genes cause most cases of early onset Alzheimer's disease.
|
10694435 |
2000 |
|
Alzheimer Disease, Early Onset
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in PS1 and PS2 genes have been found in families that cosegregate with early-onset Alzheimer's disease.
|
9206974 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) genes.
|
9172170 |
1997 |
|
Alzheimer Disease, Late Onset
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes.
|
9111746 |
1997 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the mechanism(s) whereby the PS-1 and PS-2 gene mutations operate remains unclear, it seems from the present study that the effect of the PS-2 gene mutation on the brain is much less severe, at least as far as Abeta deposition is concerned, than that of the PS-1 mutation, which seems to confer a much earlier and a much more aggressive development of AD.
|
9005865 |
1997 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in APP, PS1, and PS2 genes are causes for early onset AD.
|
24669286 |
2014 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in APP and PS-1 and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD, in addition to the at-risk gene polymorphisms responsible for late-onset AD, all indicate a direct and early role of Aβ in the pathogenesis of AD.
|
27135718 |
2016 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While genetic mutations in amyloid precursor protein and presenilin-1 and -2 (PS1 and PS2) genes cause early-onset familial AD, the etiology of sporadic AD is not fully understood.
|
23138650 |
2013 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant familial AD (FAD), linked to mutations in presenilin (PS1 and PS2) genes or the amyloid precursor protein (APP) gene, shows brain abnormalities (e.g., neurofibrillary tangles, deposits of .-amyloid A., and death of subsets of neurons) similar to those that occur in sporadic AD, the risk of which is enhanced by the presence of one or two copies of apolipoprotein E4 (apoE4) alleles.
|
9683997 |
1997 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the aberrant splicing of the PS2 gene may be implicated in the neuropathology of sporadic AD.
|
11031265 |
2001 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An increased production of Abeta-42 by mutation of PS2 genes promotes caspase expression and is associated with the Cox-2 found in the brain of AD patients.
|
12039862 |
2002 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
|
12770698 |
2003 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) genes.
|
9172170 |
1997 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The session took place in three stages: 1) a round of individual contributions from participants addressing areas that they considered of interest; 2) a general recommendation whereby studies about prevention and early diagnosis and treatment were to be initiated targeting persons bearing the dominant mutations in AbetaPP, PS-1 and PS-2 genes that result in development of AD; and 3) a proposal was made to the effect that a network be set up to facilitate interaction among those participating in the meeting.
|
20505238 |
2010 |
|
Amnesia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Recent studies have revealed that forebrain specific conditional knockouts of PS1 and PS2 genes (cPSKO) cause both neuronal degeneration and memory loss without evidence of formation of amyloid plaques.
|
17981591 |
2008 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The human pS2 gene, whose expression is restricted to breast cancer cells, and whose transcription is induced by oestrogen in the human breast cancer cell line MCF-7, has been cloned from both placental and MCF-7 cell DNA.
|
3822834 |
1987 |
|
Breast Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Characterization of the estrogen-induced pS2 protein secreted by the human breast cancer cell line MCF-7.
|
3665845 |
1987 |
|
Breast Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Regulation of the estrogen-responsive pS2 gene in MCF-7 human breast cancer cells.
|
11162921 |
2000 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Expression of the pS2 gene in breast cancer--a comparison of pS2 protein radioimmunoassay and immunohistochemistry.
|
8265245 |
1993 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Expression of the pS2 gene which is transcriptionally controlled by oestrogens in the breast cancer cell line MCF-7 is oestrogen independent in stomach mucosa.
|
2498085 |
1989 |
|
Breast Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although E<sub>2</sub> and E<sub>3</sub> were equally efficacious and potent on the endogenous ERE-containing pS2 promoter in the MCF-7 BUS breast cancer cell line co-expressing ERα and ERβ, E<sub>1</sub> was less efficacious and potent than E<sub>2</sub>.
|
28743541 |
2017 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
DNA ploidy and pS2 protein expression in breast cancer.
|
9202892 |
1997 |
|
Breast Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The pS2 gene is transcriptionally induced by oestrogen in the human breast cancer cell line MCF-7.
|
2450536 |
1988 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The expression of the estrogen-regulated breast-cancer-associated pS2 gene was examined in 75 stomach resections taken from 45 patients.
|
2583860 |
1989 |