|
Bernard-Soulier Syndrome
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Geometries of platelets in citrated PRP obtained from normal donors (17) and donors (5) with a hereditary dominant giant platelet syndrome, herein referred to as "Montreal platelet syndrome" (MPS), are compared.
|
759524 |
1979 |
|
Montreal platelet syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
Geometries of platelets in citrated PRP obtained from normal donors (17) and donors (5) with a hereditary dominant giant platelet syndrome, herein referred to as "Montreal platelet syndrome" (MPS), are compared.
|
759524 |
1979 |
|
Bernard-Soulier Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient).
|
4031633 |
1985 |
|
Montreal platelet syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
In this manner it was shown that for all donors with BSS and MPS, the shape-changed platelets are disproportionately larger than the D. In contrast, in the remaining patients with HGPS the size of the shape-changed platelets was consistent with the size predicted from the D. Examination of VT for MPS as a function of time after addition of 10 mumol/L adenosine diphosphate to PRP revealed an abnormal time course, thereby pointing to an abnormality in the mechanisms that regulate platelet size during shape change.
|
4031633 |
1985 |
|
May-Hegglin anomaly
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient).
|
4031633 |
1985 |
|
SEBASTIAN SYNDROME
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient).
|
4031633 |
1985 |
|
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 |
|
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 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.
|
1357594 |
1992 |
|
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 |
|
Encephalopathies
|
0.020 |
Biomarker
|
group |
BEFREE |
PrP gene and its association with spongiform encephalopathies.
|
8137132 |
1993 |
|
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 |
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 |
|
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 |
|
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 |
|
Prion Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The pathogenic PrP protein accumulating in the brain of TSE patients is a protease-resistant and insoluble product of a precursor protein molecule of unknown function that is encoded by the PRNP gene on chromosome 20.
|
7598484 |
1995 |
|
Encephalopathies
|
0.020 |
Biomarker
|
group |
BEFREE |
New advances in immunoassays and PrP gene analysis now provide important adjuncts in recognizing the spectrum of disorders of PrP metabolism associated with these transmissible encephalopathies.
|
7767489 |
1995 |
|
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 |
Biomarker
|
disease |
BEFREE |
Sequencing of the patient's Prp gene did not reveal the abnormalities expected in a familial case of CJD.
|
8978943 |
1996 |
|
Prion Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
There were no mutations found in the Prp gene, so it is possible that there are SEs caused by genes or other pathological processes unrelated to the Prp gene.
|
8978943 |
1996 |
|
Prion Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Age at disease onset and rate of progression of transmissible spongiform encephalopathies in man, sheep and mice are modulated by the host genome, in particular by the PrP gene and its allelic forms.
|
8922485 |
1996 |
|
Spongiform encephalopathy
|
0.010 |
Biomarker
|
disease |
BEFREE |
There were no mutations found in the Prp gene, so it is possible that there are SEs caused by genes or other pathological processes unrelated to the Prp gene.
|
8978943 |
1996 |
|
Prion Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
A number of lines of biochemical evidence implicate the disease-specific isoform, PrPsc, as the transmissible agent and genetic analysis has shown tight linkage between PrP gene mutations and polymorphisms and differential susceptibility to prion diseases, Perhaps the strongest evidence for a protein-only model of the agent is that PrP gene-ablated mice are resistant to scrapie and that mice with PrP mutation, corresponding to those found in a human familial prion disease, spontaneously develop a transmissible prion disease.
|
9239743 |
1997 |
|
Prion Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polymorphisms in the PrP gene are linked to differences in susceptibility for prion diseases.
|
9144167 |
1997 |