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Biological and Environmental Research Ontology
| Id | http://purl.obolibrary.org/obo/NCIT_C162452
http://purl.obolibrary.org/obo/NCIT_C162452
|
|---|---|
| Preferred Name | Antisense Oligonucleotide QR-313 |
| Definitions |
A twenty-one nucleotide-containing antisense oligonucleotide (AON) with potential use in the treatment of recessive dystrophic epidermolysis bullosa (RDEB) due to mutations in exon 73 of the COL7A1 gene. Upon topical administration, QR-313 hybridizes to a specific sequence in COL7A1 pre-mRNA, resulting in exclusion of exon 73 from mRNA and translation of a functional type VII collagen protein. This may restore functionality of integument anchoring fibrils, prevent blistering, and improve wound healing in patients with DEB. Type VII collagen is a major component of anchoring fibrils, attachment structures that mediate dermal-epidermal adherence in human skin. DEB is an inherited mechano-bullous disorder caused by mutations in the COL7A1 gene, which lead to perturbations in anchoring fibrils.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A twenty-one nucleotide-containing antisense oligonucleotide (AON) with potential use in the treatment of recessive dystrophic epidermolysis bullosa (RDEB) due to mutations in exon 73 of the COL7A1 gene. Upon topical administration, QR-313 hybridizes to a specific sequence in COL7A1 pre-mRNA, resulting in exclusion of exon 73 from mRNA and translation of a functional type VII collagen protein. This may restore functionality of integument anchoring fibrils, prevent blistering, and improve wound healing in patients with DEB. Type VII collagen is a major component of anchoring fibrils, attachment structures that mediate dermal-epidermal adherence in human skin. DEB is an inherited mechano-bullous disorder caused by mutations in the COL7A1 gene, which lead to perturbations in anchoring fibrils. |
|---|---|
| prefLabel | Antisense Oligonucleotide QR-313
|
| label | Antisense Oligonucleotide QR-313
|
| NCI_META_CUI | CL971000
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| PDQ_Closed_Trial_Search_ID | 798741
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| code | C162452
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| Has_Target | |
| prefixIRI | NCIT:C162452
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| in_subset | |
| Display_Name | Antisense Oligonucleotide QR-313
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| Preferred_Name | Antisense Oligonucleotide QR-313
|
| Contributing_Source | CTRP
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| Maps_To | Antisense Oligonucleotide QR-313
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| NCI_Drug_Dictionary_ID | 798741
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| type | |
| Is_Value_For_GDC_Property | |
| subClassOf | |
| PDQ_Open_Trial_Search_ID | 798741
|
| Semantic_Type |
Pharmacologic Substance
Nucleic Acid, Nucleoside, or Nucleotide
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