Article
Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes.
Stem cell research & therapy - 27 Nov 2020
Hathy Edit, Szabó Eszter, Varga Nóra, Erdei Zsuzsa, Tordai Csongor, Czehlár Boróka, Baradits Máté, Jezsó Bálint, Koller Júlia, Nagy László, Molnár Mária Judit, Homolya László, Nemoda Zsófia, Apáti Ágota, Réthelyi János M
Abstract excerpt
BACKGROUND: De novo mutations (DNMs) have been implicated in the etiology of schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction, and decreased community functioning. Several DNMs have been identified by examining SZ cases and their unaffected parents; however, in most cases, the biological significance of these mutations remains...
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