Statements (71)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
patient prognosis
neurotransmitter systems presenilin-1 protein |
| gptkbp:amended_by |
gamma-secretase activity
|
| gptkbp:are_identified_in |
familial Alzheimer's disease patients
|
| gptkbp:are_located_on |
chromosome 14
|
| gptkbp:are_part_of |
genetic screening programs
Alzheimer's disease genetics Alzheimer's disease research initiatives pathogenic mechanisms in Alzheimer's disease |
| gptkbp:are_reported_as |
pathogenic variants
|
| gptkbp:associated_with |
gptkb:neurodegenerative_diseases
|
| gptkbp:can_be_found_in |
exons of PSEN1 gene
|
| gptkbp:can_cause |
neurodegeneration
|
| gptkbp:can_detect |
genetic testing
|
| gptkbp:can_lead_to |
cognitive decline
behavioral changes early-onset familial Alzheimer's disease synaptic dysfunction |
| https://www.w3.org/2000/01/rdf-schema#label |
PSEN1 mutations
|
| gptkbp:influence |
disease progression
treatment outcomes beta-amyloid plaque formation |
| gptkbp:inherits_from |
autosomal dominant inheritance
|
| gptkbp:investigates |
clinical trials
therapeutic targets preventive strategies gene therapy approaches |
| gptkbp:is_analyzed_in |
next-generation sequencing
genetic counseling therapeutic efficacy |
| gptkbp:is_associated_with |
gptkb:neurodegenerative_diseases
neurodegenerative disorders cognitive impairment tau pathology cognitive decline rates |
| gptkbp:is_characterized_by |
specific nucleotide changes
phenotypic variability |
| gptkbp:is_common_in |
familial Alzheimer's cases
|
| gptkbp:is_considered |
risk assessment
patient management strategies |
| gptkbp:is_considered_as |
risk factors for Alzheimer's disease
|
| gptkbp:is_described_as |
heritable changes
|
| gptkbp:is_documented_in |
gptkb:literature
clinical studies |
| gptkbp:is_evaluated_by |
clinical assessments
|
| gptkbp:is_examined_in |
biomedical research
genomic analysis therapeutic implications |
| gptkbp:is_linked_to |
apoptosis
memory loss neuroinflammation clinical symptoms family history of Alzheimer's disease increased amyloid-beta production |
| gptkbp:is_monitored_by |
biomarker analysis
|
| gptkbp:is_recognized_by |
whole exome sequencing
familial Alzheimer's disease cohorts |
| gptkbp:is_studied_for |
molecular mechanisms
|
| gptkbp:is_studied_in |
animal models
biological samples genetic research genetic epidemiology longitudinal studies |
| gptkbp:reported_by |
genetic databases
|
| gptkbp:resulted_in |
abnormal amyloid precursor protein processing
|
| gptkbp:scientific_classification |
missense mutations
|
| gptkbp:treatment |
targeted therapies
|
| gptkbp:bfsParent |
gptkb:PSEN2
|
| gptkbp:bfsLayer |
8
|