Abstract：
:The neural crest (NC) gives rise to a multitude of fetal tissues, and its misregulation is implicated in congenital malformations. Here, we investigated molecular mechanisms pertaining to NC-related symptoms in Bohring-Opitz syndrome (BOS), a developmental disorder linked to mutations in the Polycomb group factor Additional sex combs-like 1 (ASXL1). Genetically edited human pluripotent stem cell lines that were differentiated to NC progenitors and then xenotransplanted into chicken embryos demonstrated an impairment of NC delamination and emigration. Molecular analysis showed that ASXL1 mutations correlated with reduced activation of the transcription factor ZIC1 and the NC gene regulatory network. These findings were supported by differentiation experiments using BOS patient-derived induced pluripotent stem cell lines. Expression of truncated ASXL1 isoforms (amino acids 1-900) recapitulated the NC phenotypes in vitro and in ovo, raising the possibility that truncated ASXL1 variants contribute to BOS pathology. Collectively, we expand the understanding of truncated ASXL1 in BOS and in the human NC.
journal_name
Stem Cell Reportsjournal_title
Stem cell reportsauthors
Matheus F,Rusha E,Rehimi R,Molitor L,Pertek A,Modic M,Feederle R,Flatley A,Kremmer E,Geerlof A,Rishko V,Rada-Iglesias A,Drukker Mdoi
10.1016/j.stemcr.2019.03.006subject
Has Abstractpub_date
2019-05-14 00:00:00pages
861-868issue
5issn
2213-6711pii
S2213-6711(19)30091-8journal_volume
12pub_type
杂志文章abstract：:Cardiomyocytes derived from human pluripotent stem cells (hPSCs) are a promising cell source for regenerative medicine, disease modeling, and drug discovery, all of which require enriched cardiomyocytes, ideally ones with mature phenotypes. However, current methods are typically performed in 2D environments that produ...
journal_title：Stem cell reports
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journal_title：Stem cell reports
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journal_title：Stem cell reports
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journal_title：Stem cell reports
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journal_title：Stem cell reports
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章
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更新日期：2018-03-13 00:00:00
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
pub_type： 杂志文章,评审
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journal_title：Stem cell reports
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journal_title：Stem cell reports
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pub_type： 杂志文章
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pub_type： 杂志文章
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journal_title：Stem cell reports
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journal_title：Stem cell reports
pub_type： 杂志文章
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journal_title：Stem cell reports
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