|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
|
20697050 |
2010 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
|
16178030 |
2005 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.
|
12654973 |
2003 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy.
|
11409420 |
2001 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.
|
2111584 |
1990 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cerebral Amyloid Angiopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP).
|
29706885 |
2018 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP).
|
29706885 |
2018 |
|
AURAL ATRESIA, CONGENITAL
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP).
|
29706885 |
2018 |
|
Cerebral Amyloid Angiopathy, Hereditary
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
|
20697050 |
2010 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D), is an autosomal dominant disorder caused by the Dutch mutation (E693Q) in the beta-amyloid precursor protein.
|
17628026 |
2007 |
|
AURAL ATRESIA, CONGENITAL
|
|
0.020 |
GeneticVariation
|
BEFREE |
We found that neuronal overexpression of human E693Q APP in mice (APPDutch mice) caused extensive CAA, smooth muscle cell degeneration, hemorrhages and neuroinflammation.
|
15311281 |
2004 |
|
Cerebral Amyloid Angiopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The E693Q mutation in the amyloid beta precursor protein (APP) leads to cerebral amyloid angiopathy (CAA), with recurrent cerebral hemorrhagic strokes and dementia.
|
15311281 |
2004 |
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
While patients with the Dutch APP mutation (E693Q) have predominantly hemorrhagic strokes, Flemish APP (A692G) patients develop both strokes and Alzheimer's disease (AD).
|
12505425 |
2002 |
|
Cerebral Amyloid Angiopathy, Hereditary
|
|
0.020 |
GeneticVariation
|
BEFREE |
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
|
10671319 |
2000 |
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
|
10671319 |
2000 |
|
Anxiety Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Dutch APP(E693Q) transgenic mice accumulate oligomeric Aβ as they age, as well as Aβ oligomer-dose-dependent anxiety and impaired novel object recognition (NOR).
|
25349165 |
2015 |
|
Anxiety
|
|
0.010 |
GeneticVariation
|
BEFREE |
Dutch APP(E693Q) transgenic mice accumulate oligomeric Aβ as they age, as well as Aβ oligomer-dose-dependent anxiety and impaired novel object recognition (NOR).
|
25349165 |
2015 |
|
Senile Plaques
|
|
0.010 |
GeneticVariation
|
BEFREE |
The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months.
|
20641005 |
2010 |
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months.
|
20641005 |
2010 |
|
Presenile dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E693Q mutation in the amyloid beta precursor protein (APP) leads to cerebral amyloid angiopathy (CAA), with recurrent cerebral hemorrhagic strokes and dementia.
|
15311281 |
2004 |
|
Dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E693Q mutation in the amyloid beta precursor protein (APP) leads to cerebral amyloid angiopathy (CAA), with recurrent cerebral hemorrhagic strokes and dementia.
|
15311281 |
2004 |
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation
|
BEFREE |
While patients with the Dutch APP mutation (E693Q) have predominantly hemorrhagic strokes, Flemish APP (A692G) patients develop both strokes and Alzheimer's disease (AD).
|
12505425 |
2002 |