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- NCIT_C162452 IAO_0000115 "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." @default.
- NCIT_C162452 NCIT_A32 NCIT_C1909 @default.
- NCIT_C162452 NCIT_A7 NCIT_C162448 @default.
- NCIT_C162452 NCIT_NHC0 "C162452" @default.
- NCIT_C162452 NCIT_P106 "Nucleic Acid, Nucleoside, or Nucleotide" @default.
- NCIT_C162452 NCIT_P106 "Pharmacologic Substance" @default.
- NCIT_C162452 NCIT_P107 "Antisense Oligonucleotide QR-313" @default.
- NCIT_C162452 NCIT_P108 "Antisense Oligonucleotide QR-313" @default.
- NCIT_C162452 NCIT_P208 "CL971000" @default.
- NCIT_C162452 NCIT_P322 "CTRP" @default.
- NCIT_C162452 NCIT_P322 "GDC" @default.
- NCIT_C162452 NCIT_P329 "798741" @default.
- NCIT_C162452 NCIT_P330 "798741" @default.
- NCIT_C162452 NCIT_P375 "Antisense Oligonucleotide QR-313" @default.
- NCIT_C162452 NCIT_P399 "798741" @default.
- NCIT_C162452 normalizedInformationContent "100" @default.
- NCIT_C162452 referenceCount "1" @default.
- NCIT_C162452 hasExactSynonym "Antisense Oligonucleotide QR-313" @default.
- NCIT_C162452 hasExactSynonym "QR 313" @default.
- NCIT_C162452 hasExactSynonym "QR-313" @default.
- NCIT_C162452 hasExactSynonym "QR313" @default.
- NCIT_C162452 inSubset NCIT_C116977 @default.
- NCIT_C162452 inSubset NCIT_C116978 @default.
- NCIT_C162452 inSubset NCIT_C157711 @default.
- NCIT_C162452 inSubset NCIT_C157712 @default.
- NCIT_C162452 inSubset NCIT_C176424 @default.
- NCIT_C162452 inSubset NCIT_C177537 @default.
- NCIT_C162452 type Class @default.
- NCIT_C162452 isDefinedBy ncit.owl @default.
- NCIT_C162452 label "Antisense Oligonucleotide QR-313" @default.
- NCIT_C162452 subClassOf NCIT_C1291 @default.
- NCIT_C162452 subClassOf NCIT_C162452 @default.
- NCIT_C162452 subClassOf NCIT_C1908 @default.
- NCIT_C162452 subClassOf NCIT_C1909 @default.
- NCIT_C162452 subClassOf NCIT_C1962 @default.
- NCIT_C162452 subClassOf NCIT_C307 @default.