DEAF1 Antibody

1. The results demonstrate that variants located within the neurodevelopmental disorder (DAND)or NLS domains significantly reduce DEAF1 transcriptional regulatory activities and are thus, likely to contribute to the underlying clinical concerns in DAND patients. PMID: 28940898
2. identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1 PMID: 28213671
3. 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. PMID: 26834045
4. RAI1 polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR receptors and the transcription factor DEAF1, respectively, in Smith-Magenis and Potocki-Lupski syndromes patients. PMID: 26743651
5. 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 PMID: 26048982
6. Data show that deformed epidermal autoregulatory factor-1 (DEAF1) was located in the nucleus under the fluorescence microscope. PMID: 26271982
7. 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. PMID: 25187368
8. This study indicates, for the first time, a hereditary role of DEAF1 in white matter abnormalities, microcephaly and syndromic intellectual disability. PMID: 24668509
9. these results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. PMID: 24726472
10. Pellino1 interacts with the transcription factor Deformed Epidermal Autoregulatory Factor 1 (DEAF1). PMID: 23846693
11. Non-genomic downregulation of 5-HT1A receptor by 17beta-estradiol does not involve NUDR and Freud-1 proteins. PMID: 22328058
12. DEAF1 can interact with the DNA-PK complex through interactions of its DNA binding domain with the carboxy-terminal region of Ku70 that contains the Bax binding domain, and that DEAF1 is a potential substrate for DNA-PK. PMID: 22442688
13. Data identify DEAF1 as an interactor and in vitro substrate of GSK3A and GSK3B that interacts with the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway. PMID: 20368287
14. 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. PMID: 20226168
15. The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs. PMID: 11705868
16. DEAF1 has nuclear export signal and protein interaction domains PMID: 15161925
17. Cell-specific regulation by Deaf-1 could underlie region-specific alterations in 5-HT1A receptor expression in different mood disorders. PMID: 16467535
18. In this study the NUDR immunoreactivity as measured by Western blot was significantly decreased in the prefrontal cortex of female depressed subjects (42%, p=0.02) and unchanged in male depressed subjects relative to gender-matched control subjects. PMID: 18561871
19. Overexpression of transgenic DEAF-1 in human breast epithelial cells enhances cell proliferation. PMID: 18826651
20. DEAF-1 is a trans-acting factor that merits further investigation as a potential tool for modulating GDF5 expression. PMID: 19565498
21. Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes. PMID: 19668219

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HGNC: 14677

OMIM: 602635

KEGG: hsa:10522

STRING: 9606.ENSP00000371846

UniGene: Hs.243994