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Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Proc+Natl+Acad+Sci+U+S+A 2016 ; 113 (20): 5676-81 Nephropedia Template TP
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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.