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Article

Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.

American journal of human genetics - 3 Jun 2021

Miyauchi Toshinari, Suzuki Shotaro, Takeda Masae, Peh Jin Teng, Aiba Masayuki, Natsuga Ken, Fujita Yasuyuki, Takeichi Takuya, Sakamoto Taiko, Akiyama Masashi, Shimizu Hiroshi, Nomura Toshifumi

Abstract excerpt

Revertant mosaicism, or "natural gene therapy," refers to the spontaneous in vivo reversion of an inherited mutation in a somatic cell. Only approximately 50 human genetic disorders exhibit revertant mosaicism, implicating a distinctive role played by mutant proteins in somatic correction of a pathogenic germline mutation. However, the process by which mutant proteins induce somatic genetic reversion in these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34004138
DOI: 10.1016/j.ajhg.2021.04.021
PMCID: PMC8206392

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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