Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

Autor: Philip J Jensik, Jodi I Huggenvik, Michael W Collard

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e33404 (2012)

Deformed Epidermal Autoregulatory Factor 1 (DEAF1) is a transcription factor linked to suicide, cancer, autoimmune disorders and neural tube defects. To better understand the role of DEAF1 in protein interaction networks, a GST-DEAF1 fusion protein w

Externí odkaz: https://doaj.org/article/e1916b19639b4a978b9422fda022162d

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Autor: Jodi I. Huggenvik, Xiang Cai, Michael W. Collard, Anneke T. Vulto-van Silfhout, Shivakumar Rajamanickam, Joris A. Veltman, Bregje W.M. van Bon, Evan E. Eichler, Philip J. Jensik, Bert B.A. de Vries, Stacy Ownby, Alexander Hoischen, Dorien Lugtenberg, Joseph Bulinski, Arjan P.M. de Brouwer, Gregory M. Rose, Nina De Rocker, Gemma L. Carvill, Heather C Mefford, Ramya Raghavan, Björn Menten, Joep de Ligt, Kathryn J. Newhall, Sarah Vergult, G. Stanley McKnight, Lisenka E.L.M. Vissers, Han G. Brunner, Hans van Bokhoven, Christiane Zweier, Tara McIntyre, Andy Willaert, Petra de Vries, Sara Reardon, Kelsey Jarrett, Sabine Endele, Anita Rauch

Publikováno v: American Journal of Human Genetics, 94, 5, pp. 649-61
American Journal of Human Genetics, 94, 649-61
The American Journal of Human Genetics; Vol 94

Contains fulltext : 137502.pdf (Publisher’s version ) (Open Access) Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::184d6f829ac573fa4aa8b126eb553590

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Autor: Zhihong Liu, Jodi I. Huggenvik, Toby J. Gibson, Michael Sattler, Matthew J. Bottomley, Michael W. Collard

Publikováno v: Nature Structural Biology. 8:626-633

The SAND domain is a conserved sequence motif found in a number of nuclear proteins, including the Sp100 family and NUDR. These are thought to play important roles in chromatin-dependent transcriptional regulation and are linked to many diseases. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1599b0474b1a19ad4bac29e8d3b0f0e4
https://doi.org/10.1038/89675

Conditional knockout of Deaf1 in neuronal precursors produces anxiety behavior in adult mice

Autor: Kelsey Jarrett, Michael W Collard, Jodi I Huggenvik, Joseph Bulinski, Kaitlin Bowman, Shivakumar Rajamanickam

Publikováno v: The FASEB Journal. 26

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::466a4091d2f639d89d88db9915bdbbd2
https://doi.org/10.1096/fasebj.26.1_supplement.lb701

Modification of the retinoic acid signaling pathway by the catalytic subunit of protein kinase-A

Autor: Yang-Won Kim, J. I. Huggenvik, Raghubir P. Sharma, Michael W. Collard

Publikováno v: Molecular Endocrinology. 7:543-550

Retinoic acid receptors (RARs) are ligand-activated nuclear transcription factors that belong to the steroid-thyroid hormone receptor superfamily. We have used the transient transfection of a retinoic acid-responsive reporter plasmid (RARECAT) to inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825e9969ede76da3c82233ea505d0183
https://doi.org/10.1210/mend.7.4.8388997