Statements (62)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
4
|
| gptkbp:bfsParent |
gptkb:TFIIH
|
| gptkbp:associated_with |
neurodegeneration
retinal degeneration immunodeficiency cognitive impairment short stature skin changes scoliosis dental abnormalities UV sensitivity |
| gptkbp:caused_by |
mutations in the ERC C6 gene
mutations in the ERC C8 gene |
| gptkbp:current_use |
gptkb:Tay-Sachs_disease
gptkb:neurofibromatosis_type_1 gptkb:fandom gptkb:Bloom_syndrome gptkb:xeroderma_pigmentosum gptkb:Ataxia-telangiectasia gptkb:psychologist gptkb:Menkes_disease gptkb:Werner_syndrome Huntington's disease |
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:Edward_Cockayne
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cockayne syndrome
|
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:lifespan |
variable
|
| gptkbp:research |
neuroinflammation
cellular senescence genomic instability increased apoptosis increased oxidative stress potential for gene therapy altered cell signaling pathways altered lipid metabolism defective mitochondrial function disrupted circadian rhythms impaired DNA repair capacity impaired protein homeostasis reduced lifespan in model organisms role of antioxidants in treatment |
| gptkbp:research_focus |
patient quality of life
therapeutic interventions DNA repair mechanisms genetic counseling clinical management |
| gptkbp:social_responsibility |
genetic testing
clinical evaluation |
| gptkbp:symptoms |
hearing loss
photosensitivity growth failure neurological problems progeroid features |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy |
| gptkbp:type |
gptkb:Type_I
gptkb:Type_II gptkb:Type_III |
| gptkbp:year_created |
1936
|