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effects of loss or gain of DEAF-1 function on Drosophila development
DEAF-1 is a regulator of Drosophila immunity; it activates the expression of Mtk and Drs (zeige DARS ELISA Kits) promoter.
identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 (zeige IQSEC2 ELISA Kits) and a missense variant in the SAND domain of DEAF1
We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome.
RAI1 (zeige DOM3Z ELISA Kits) polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR (zeige RARA ELISA Kits) receptors and the transcription factor DEAF1, respectively, in Smith-Magenis and Potocki-Lupski syndromes patients.
an autosomal recessive splice acceptor mutation in DEAF1 (c.997+4A>C, p.G292Pfs*) in all affected individuals, which led to exon skipping, and reduced the normal full-length mRNA copy number in the patients with epilepsy and extrapyramidal symptoms
Data show that deformed epidermal autoregulatory factor-1 (DEAF1) was located in the nucleus under the fluorescence microscope.
These data suggest that during the progression of type 1 diabetes, inflammation and hyperglycemia mediate the splicing of DEAF1 and loss of peripheral tissue antigen expression.
This study indicates, for the first time, a hereditary role of DEAF1 in white matter abnormalities, microcephaly and syndromic intellectual disability.
these results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
Pellino1 interacts with the transcription facto (zeige IRF3 ELISA Kits)r Deforme (zeige IRF7 ELISA Kits)d Epidermal Autoregulatory Factor 1 (DEAF1).
Non-genomic downregulation of 5-HT1A receptor (zeige HTR1A ELISA Kits) by 17beta-estradiol does not involve NUDR and Freud-1 (zeige CC2D1A ELISA Kits) proteins.
DEAF1 binds to the IFNbeta promoter and to IRF3 (zeige IRF3 ELISA Kits) and IRF7 (zeige IRF7 ELISA Kits), that it is required for the transcription of the IFNbeta gene and IFNbeta secretion
reduced DEAF1 function, and subsequent loss of Eif4g3 transcription may affect peripheral tissue antigen (PTA) expression in LNSCs and contribute to the pathology of T1D.
LMO4 (zeige LMO4 ELISA Kits) modulates the activity of the DEAF NES (zeige NES ELISA Kits), causing nuclear accumulation of a construct containing the LMO4 (zeige LMO4 ELISA Kits)-interaction region of DEAF1.
Reduced raphe 5-HT (zeige DDC ELISA Kits) content in Deaf-1(-/-) mice indicate its importance in regulation of 5-HT1A (zeige HTR1A ELISA Kits) gene expression and the role of the 5-HT1A (zeige HTR1A ELISA Kits) G(-1019) allele in reducing serotonergic neurotransmission by derepression of 5-HT1A (zeige HTR1A ELISA Kits) autoreceptors.
These results suggest that transcription factors such as Aire and Deaf1, which exert global transcriptional regulatory functions, may play important roles in self-renewal of ESCs and maintaining ESC in a transcriptionally hyperactive state.
Data indicate an important role for LMO4 (zeige LMO4 ELISA Kits) and Deaf-1 in pathways affecting neural tube closure and skeletal patterning, most likely reflecting their presence in a functional complex in vivo.
Lower peripheral tissue antigens (PTA (zeige PTCRA ELISA Kits)) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes.
Transcription factor that binds the homeotic Deformed (Dfd) response element. High affinity binding sites contain at least 1 TTCG motif surrounded by additional TCG sequences. May be involved in the selective action of Dfd on these sites without binding directly to the Dfd protein. Requirement of DEAF1 activity may be a common feature of enhancers targeted by Dfd.
, deformed epidermal autoregulatory factor-1
, deformed epidermal autoregulatory factor 1 homolog
, deformed epidermal autoregulatory factor 1 (Drosophila)
, deformed epidermal autoregulatory factor 1 homolog-like
, deformed epidermal autoregulatory factor 1
, nuclear DEAF-1-related transcriptional regulator
, zinc finger MYND domain-containing protein 5
, DEAF-1 related transcriptional regulator (NUDR)
, DEAF-1 related transcriptional regulator
, nuclear DEAF-1 related transcriptional regulator
, zinc finger MYND domain containing 5