Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:anatomy |
gptkb:Brain
gptkb:Heart skeletal muscle |
| gptkbp:animal_model |
DMD dog model
mdx mouse |
| gptkbp:associated_protein |
gptkb:dystroglycan
gptkb:sarcoglycan_complex dystrophin-associated glycoprotein complex nebulin titin |
| gptkbp:associated_with |
gptkb:Duchenne_muscular_dystrophy
|
| gptkbp:breeding_range |
gptkb:Xp21.2
|
| gptkbp:clinical_trial |
muscle weakness
respiratory issues highly pathogenic scoliosis joint contractures gait abnormalities utrophin upregulation exon skipping therapy cardiac issues progressive muscle degeneration stop codon read-through therapy |
| gptkbp:code |
dystrophin protein
|
| gptkbp:condition |
gptkb:Cardiology
cognitive impairment |
| gptkbp:diagnosis |
blood test
biopsy genetic sequencing muscle MRI |
| gptkbp:discovery |
Kunkel et al.
|
| gptkbp:discovery_year |
gptkb:1986
|
| gptkbp:diseases |
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy |
| gptkbp:function |
muscle fiber integrity
|
| gptkbp:genetic_studies |
deletion
1 in 3,500 male births point mutation duplication |
| https://www.w3.org/2000/01/rdf-schema#label |
DMD gene
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_tested_for |
genetic testing
|
| gptkbp:located_in |
X chromosome
|
| gptkbp:nutritional_value |
actin-binding domain
C-terminal domain dystrophin N-terminal domain |
| gptkbp:pathway |
signal transduction
muscle development cell membrane stability |
| gptkbp:promoter |
DMD
|
| gptkbp:research_areas |
stem cell therapy
exon skipping protein replacement therapy gene replacement therapy antisense oligonucleotides |
| gptkbp:research_focus |
gptkb:gene_therapy
gptkb:CRISPR_technology |
| gptkbp:targets |
dystrophin restoration
|
| gptkbp:transcript |
DMD m RNA
|
| gptkbp:bfsParent |
gptkb:Xp21.2
|
| gptkbp:bfsLayer |
7
|