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- W2999682451 abstract "To investigate the possible involvement of germline mutations in pectus excavatum (PE). We investigated a four-generation pedigree with PE. Whole-exome sequencing (WES)was performed to identify potential mutations for PE formation. Sanger sequencing was used to validate these mutations. hFOB1.19 cell proliferation was measured with a Celigo imaging cytometry system. There were four PE patients in this four-generation pedigree. In the four patients, we identified a novel heterozygous stop-gain variant in Tubulointerstitial Nephritis Antigen (TINAG) through exome sequencing: c.G2A, p.W2*. This mutation was validated by Sanger sequencing. Knockdown of TINAG inhibited the proliferation of hFOB1.19 cells. Based on these results, we hypothesize that the TINAG c.G2A mutation is a loss-of-functionmutationthat reduces TINAG expression. Increasing TINAG warrants further investigation as a potential novel anabolic mechanism of PE treatment." @default.
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- W2999682451 date "2020-04-01" @default.
- W2999682451 modified "2023-09-30" @default.
- W2999682451 title "TINAG mutation as a genetic cause of pectus excavatum" @default.
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- W2999682451 doi "https://doi.org/10.1016/j.mehy.2020.109557" @default.
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