http://www.cancerindex.org/geneweb/CTBP1.htm WebCTBP1-AS is an androgen-responsive lncRNA involved in the regulatory epigenetic network in prostate cancer, which functions in response to androgens [24]. Its expression is …

Purified Mouse Anti-CtBP1 - BD Biosciences

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 … 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 … oosterhof holman

CtBP Family Proteins: Unique Transcriptional Regulators in the …

WebWithin this cohort, we identified consistent CtBP1-related phenotypes of intellectual disability, ataxia, hypotonia, and tooth enamel defects present in most patients. The … WebFunction [ edit] The CtBP1 protein was originally identified as a human protein that bound a PLDLS motif in the C-terminus of adenovirus E1A proteins. It and the related protein CTBP2 were later shown to function as transcriptional corepressors. [7] That is, regulatory proteins that bind to sequence-specific DNA-binding proteins and help turn ... WebWe previously reported a pathogenic de novo p.R342W mutation in the transcriptional corepressor CTBP1 in four independent patients with neurodevelopmental disabilities [1]. Here, we report the clinical phenotypes of seven additional individuals with the same recurrent de novo CTBP1 mutation. Within … oosterhorn 38 farmsum