| Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3beta. | Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3β.
Harkin EF, Nasrallah G, Le François B, Albert PR., Free PMC Article | 11/29/2023 |
| De novo variants of DEAF1 cause intellectual disability in six Chinese patients. | De novo variants of DEAF1 cause intellectual disability in six Chinese patients.
Chen S, Deng X, Xiong J, He F, Yang L, Chen B, Chen C, Zhang C, Yang L, Peng J, Yin F. | 08/28/2021 |
| this study shows that Deaf1 promotes eccrine gland formation | The Transcription Factor Deaf1 Modulates Engrailed-1 Expression to Regulate Skin Appendage Fate.
Aldea D, Kokalari B, Luckhart C, Aharoni A, Albert PR, Kamberov YG. | 06/13/2020 |
| We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. | De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. | 02/8/2020 |
| 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. | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH., Free PMC Article | 06/23/2018 |
| identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1 | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM., Free PMC Article | 06/24/2017 |
| 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. | Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
Gund C, Powis Z, Alcaraz W, Desai S, Baranano K. | 01/14/2017 |
| 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. | Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.
Chen L, Tao Y, Song F, Yuan X, Wang J, Saffen D., Free PMC Article | 12/17/2016 |
| 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 | Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E. | 06/4/2016 |
| Data show that deformed epidermal autoregulatory factor-1 (DEAF1) was located in the nucleus under the fluorescence microscope. | [Screening of deformed epidermal autoregulatory factor 1-related functional proteins].
Wu X, Sheng D. | 12/19/2015 |
| 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. | Inflammation and hyperglycemia mediate Deaf1 splicing in the pancreatic lymph nodes via distinct pathways during type 1 diabetes.
Yip L, Fuhlbrigge R, Taylor C, Creusot RJ, Nishikawa-Matsumura T, Whiting CC, Schartner JM, Akter R, von Herrath M, Fathman CG., Free PMC Article | 04/4/2015 |
| This study indicates, for the first time, a hereditary role of DEAF1 in white matter abnormalities, microcephaly and syndromic intellectual disability. | Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N. | 01/17/2015 |
| these results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. | Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB., Free PMC Article | 06/28/2014 |
| Pellino1 interacts with the transcription factor Deformed Epidermal Autoregulatory Factor 1 (DEAF1). | DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA.
Ordureau A, Enesa K, Nanda S, Le Francois B, Peggie M, Prescott A, Albert PR, Cohen P., Free PMC Article | 11/16/2013 |
| Non-genomic downregulation of 5-HT1A receptor by 17beta-estradiol does not involve NUDR and Freud-1 proteins. | 17β-estradiol-induced regulation of the novel 5-HT1A-related transcription factors NUDR and Freud-1 in SH SY5Y cells.
Adeosun SO, Albert PR, Austin MC, Iyo AH., Free PMC Article | 02/2/2013 |
| 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. | Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.
Jensik PJ, Huggenvik JI, Collard MW., Free PMC Article | 07/28/2012 |
| 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. | Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor.
Pilot-Storck F, Chopin E, Rual JF, Baudot A, Dobrokhotov P, Robinson-Rechavi M, Brun C, Cusick ME, Hill DE, Schaeffer L, Vidal M, Goillot E., Free PMC Article | 11/6/2010 |
| 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. | Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.
Gu B, Zhang J, Chen Q, Tao B, Wang W, Zhou Y, Chen L, Liu Y, Zhang M., Free PMC Article | 05/3/2010 |
| DEAF-1 is a trans-acting factor that merits further investigation as a potential tool for modulating GDF5 expression. | Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.
Egli RJ, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, Carr A, Chapman K, Loughlin J., Free PMC Article | 01/21/2010 |
| Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes. | Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes.
Yip L, Su L, Sheng D, Chang P, Atkinson M, Czesak M, Albert PR, Collier AR, Turley SJ, Fathman CG, Creusot RJ., Free PMC Article | 01/21/2010 |
| 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. | Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder.
Szewczyk B, Albert PR, Burns AM, Czesak M, Overholser JC, Jurjus GJ, Meltzer HY, Konick LC, Dieter L, Herbst N, May W, Rajkowska G, Stockmeier CA, Austin MC., Free PMC Article | 01/21/2010 |
| Overexpression of transgenic DEAF-1 in human breast epithelial cells enhances cell proliferation. | Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland.
Barker HE, Smyth GK, Wettenhall J, Ward TA, Bath ML, Lindeman GJ, Visvader JE., Free PMC Article | 01/21/2010 |
| Cell-specific regulation by Deaf-1 could underlie region-specific alterations in 5-HT1A receptor expression in different mood disorders. | Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism.
Czesak M, Lemonde S, Peterson EA, Rogaeva A, Albert PR., Free PMC Article | 01/21/2010 |
| DEAF1 has nuclear export signal and protein interaction domains | Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).
Jensik PJ, Huggenvik JI, Collard MW. | 01/21/2010 |
| The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs. | Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.
Manne U, Gary BD, Oelschlager DK, Weiss HL, Frost AR, Grizzle WE. | 01/21/2010 |