WebSep 27, 2024 · Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is an extremely rare autosomal dominant genetic disease caused by disruptive pathogenic variants in CTBP1. There are merely 12 cases reported to have pathogenic variants in the CTBP1 gene. Here, we report the first case with HADDTS in the Middle … WebNov 4, 2024 · C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a significant role during vertebrate neurodevelopment. This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development syndromes.We screened different databases (PubMed, Scopus, Google …
A pathogenic CtBP1 missense mutation causes altered …
WebCTBP1 is a cellular phosphoprotein that associates with various proteins and functions as a corepressor of transcription. CTBP1 and the related protein CTBP2 are characterized as C-terminal binding protein of adenovirus E1A, and they preferentially associate with the E1A via a 5-amino acid motif, PLDLS, to repress E1A induced oncogenesis and ... WebCtBP1 and CtBP2 are 80% homologous, and both are expressed at high levels in embryonic tissues. However, CtBP1 is expressed higher in adult tissues, and is more widely expressed in embryonic and adult tissues. Both CtBP1 and CtBP2 bind the δEF1 zinc finger … theoretical limit ball bouncing
CtBP1 Mediates Hypoxia-Induced Sarcomatoid Transformation in …
WebAug 14, 2024 · The phenotype of Ctbp1/2 DKO in ground-state ESCs resembles that of Klf2 KO ESCs cultured in 2i (Yeo et al., 2014). There was an abnormal upregulation of PGC markers in Klf2 KO ESCs under 2i conditions. In contrast, the expression of PGC-markers in Ctbp1/2 DKO ESCs were similar to those in wild-type ESCs under the 2i plus LIF … WebJul 25, 2024 · Ataxia and cerebellar anomalies - narrow panelGene: CTBP1. Green List (high evidence) CTBP1 (C-terminal binding protein 1) EnsemblGeneIds (GRCh38): ENSG00000159692. EnsemblGeneIds (GRCh37): ENSG00000159692. OMIM: 602618, Gene2Phenotype. CTBP1 is in 4 panels. Reviews (1) WebFeb 11, 2024 · Conclusion: CtBP1 plays a key role in hypoxia-induced EMT and sarcomatoid transformation in HCC and could be a candidate target for the management of sHCC. Graphical Abstract: Keywords: C-terminal binding protein 1, sarcomatoid hepatocellular carcinoma, hypoxia, sarcomatoid transformation, epithelial-to … theoretical limiting potential