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10.1073/pnas.1512028113

http://scihub22266oqcxt.onion/10.1073/pnas.1512028113
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C4878469!4878469!27143720
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suck abstract from ncbi


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pmid27143720      Proc+Natl+Acad+Sci+U+S+A 2016 ; 113 (20): 5676-81
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  • Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa #MMPMID27143720
  • Shinkuma S; Guo Z; Christiano AM
  • Proc Natl Acad Sci U S A 2016[May]; 113 (20): 5676-81 PMID27143720show ga
  • Some inherited autosomal dominant disorders are caused by dominant negative mutations whose gene product adversely affects the normal gene product expressed from the other allele. Gene editing with engineered site-specific endonucleases leads to a double-strand break, which promotes nonhomologous end-joining (NHEJ). NHEJ is error-prone and conducive to the generation of frameshift mutations, leading to intentional knockout of a gene. Therefore, gene editing with engineered site-specific endonucleases is applicable to dominant negative disorders, to target only the mutant allele and leave the normal allele intact. This technique could provide a significant benefit for patients with dominant negative disorders in combination with induced pluripotent stem cell technology that acquires multipotential differentiation and unlimited self-renewal capacity.
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