|
Liver carcinoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Prx II is FoxM1-dependently-expressed antioxidant in HCC and function as an enhancer of Ras(G12V) oncogenic potential in hepatic tumorigenesis through activation of ERK/FoxM1/cyclin D1 cascade.
|
26500057 |
2016 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the linkage of mutations within the PRNP gene with phenotypic appearance of Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome points to importance of the PrP gene.
|
7922109 |
1994 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among the dozen known mutations in the PrP gene which segregate with the inherited prion diseases, only 2 mutations have been described in Israel so far: the codon 200 mutation in Creutzfeldt-Jakob disease (CJD) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstmann-Straussler-Scheinker (GSS) affected pedigree of German origin.
|
9531435 |
1998 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.
|
19703264 |
2010 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).
|
8647879 |
1996 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have compared the immunomorphological spectrum of the deposition of the disease-associated prion protein (PrP(Sc)) in the cerebral and cerebellar cortex of 32 Creutzfeldt-Jakob disease (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and 14 other genetic prion disease cases.
|
12677444 |
2003 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The epidemiological data suggests a very high familial incidence of CJD in this population and a molecular genetic research elucidated that CJD segregates with a point mutation at codon 200 of the PrP gene resulting in the substitution of Lysine for Glutamate.
|
7858176 |
1994 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.
|
10932276 |
2000 |
|
Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In Creutzfeldt-Jakob disease (CJD), the type (type 1 or 2) of abnormal isoform of the prion protein (PrP(Sc)) in the brain and the genotype at codon 129 of the PrP gene are major determinants of clinicopathological phenotype.
|
15604452 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Consistent with this, knockdown of Prx II in H-ras(G12V)-HCC cells reduced the expression of cyclin D1, cell proliferation, anchorage-independent growth and tumor formation in athymic nude mice, whereas overexpression of Prx II increased or aggravated the tumor phenotypes.
|
26500057 |
2016 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The identification of pathogenic PrP alleles and the role of the codon 129 PrP gene polymorphism in determining susceptibility to prion disease provides strong support for the idea that an abnormal isoform of PrP, PrPSc, is the principal constituent of the prion and that its propagation involves direct PrP-PrP interactions which occur most readily between identical PrP molecules.
|
7913754 |
1994 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Growth factors like NGF are known to increase the expression of PrP gene, a housekeeping gene which is responsible for susceptibility to transmissible spongiform encephalopathies.
|
7902706 |
1993 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polymorphisms in the PrP gene are linked to differences in susceptibility for prion diseases.
|
9144167 |
1997 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These studies argue that amino acid substitutions in 'PrP' genes may modulate initiation and development of prion diseases.
|
2473558 |
1989 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Progress has been made in understanding inherited prion diseases by genetically linking clusters of familial CJD (fCJD) to mutations of the PrP gene (PRNP).
|
9279329 |
1997 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To investigate this possibility, we looked into the time related changes of PrP proteins in the brains of TgMHu2ME199K/wt mice, a line modeling for heterozygous genetic prion disease linked to the E200K PrP mutation.
|
23922744 |
2013 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the dozen known mutations in the PrP gene which segregate with the inherited prion diseases, only 2 mutations have been described in Israel so far: the codon 200 mutation in Creutzfeldt-Jakob disease (CJD) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstmann-Straussler-Scheinker (GSS) affected pedigree of German origin.
|
9531435 |
1998 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have compared the immunomorphological spectrum of the deposition of the disease-associated prion protein (PrP(Sc)) in the cerebral and cerebellar cortex of 32 Creutzfeldt-Jakob disease (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and 14 other genetic prion disease cases.
|
12677444 |
2003 |
|
Colorectal Carcinoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Two patients with KRAS-mutated CRC showed the same mutation in PPL in the same specimen (one serrated change NOS and one TSA with high-grade dysplasia).
|
30679085 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene.
|
9153600 |
1997 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Here we have performed systematic studies of purified resPrP<sup>D</sup> species extracted from GSS cases with the A117V (GSS<sup>A117V</sup>) and F198S (GSS<sup>F198S</sup>) PrP gene mutations.
|
31142381 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the linkage of mutations within the PRNP gene with phenotypic appearance of Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome points to importance of the PrP gene.
|
7922109 |
1994 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The discovery of mutations in the PrP gene which segregates with other familial prion diseases such as Gerstmann-Straussler syndrome (GSS) lead us to perform a molecular genetic study and compare it to an epidemiological survey among the Libyan community.
|
7858176 |
1994 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Discovery of a point mutation in the Prp gene from humans with GSS established that GSS is unique among human diseases--it is both genetic and infectious.
|
1684745 |
1991 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
A mutation equivalent to P102L in the human PrP gene, associated with Gerstmann-Straussler syndrome (GSS), has been introduced into the murine PrP gene by gene targeting.
|
10581259 |
1999 |