Statements (72)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
RNA binding
gene expression neuronal function |
| gptkbp:are |
rare
|
| gptkbp:are_part_of |
genetic databases
genetic screening programs |
| gptkbp:associated_with |
gptkb:Amyotrophic_lateral_sclerosis
gptkb:Frontotemporal_dementia |
| gptkbp:can_be |
heterozygous
de novo mutations |
| gptkbp:can_be_investigated_in |
functional assays
|
| gptkbp:can_cause |
motor neuron disease
|
| gptkbp:can_detect |
genetic testing
|
| gptkbp:can_involve |
exon skipping
|
| gptkbp:can_lead_to |
cognitive decline
loss of function protein misfolding |
| gptkbp:can_result_in |
cellular dysfunction
cellular toxicity |
| gptkbp:discovered_by |
gptkb:FUS_gene
|
| gptkbp:exhibits |
autosomal dominant inheritance
|
| https://www.w3.org/2000/01/rdf-schema#label |
FUS mutations
|
| gptkbp:impact |
cellular stress response
|
| gptkbp:influence |
disease progression
splicing regulation treatment outcomes |
| gptkbp:investigates |
animal models
therapeutic interventions longitudinal studies risk assessment. |
| gptkbp:is_analyzed_in |
whole exome sequencing
population genetics studies genetic variants |
| gptkbp:is_associated_with |
phenotypic variability
specific clinical features increased risk of disease disease severity |
| gptkbp:is_characterized_by |
specific nucleotide changes
specific clinical phenotypes |
| gptkbp:is_considered |
genetic counseling
|
| gptkbp:is_documented_in |
gptkb:literature
gptkb:guidelines |
| gptkbp:is_examined_in |
clinical trials
biological samples pathogenicity case-control studies clinical implications neurodegenerative disease research |
| gptkbp:is_found_in |
human populations
|
| gptkbp:is_linked_to |
environmental factors
neuroinflammation nuclear transport protein aggregation cellular pathways age of onset |
| gptkbp:is_noted_for |
high penetrance
clinical heterogeneity |
| gptkbp:is_part_of |
multidisciplinary research efforts
multifactorial inheritance models |
| gptkbp:is_recognized_by |
familial cases
familial ALS cases |
| gptkbp:is_studied_for |
therapeutic targets
molecular mechanisms gene therapy approaches |
| gptkbp:is_studied_in |
genetic research
preventive strategies |
| gptkbp:is_tested_for |
biomarker studies
|
| gptkbp:may_alter |
protein interactions
|
| gptkbp:resulted_in |
neurodegeneration
|
| gptkbp:bfsParent |
gptkb:neurodegenerative_diseases
|
| gptkbp:bfsLayer |
4
|