PMC Links for Gene (Select 10522) - PMC

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Select item 56794641.

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype

Li Chen, Philip J. Jensik, Joseph T. Alaimo, Magdalena Walkiewicz, Seth Berger, Elizabeth Roeder, Eissa A. Faqeih, Jonathan A. Bernstein, Ann C. M. Smith, Sureni V. Mullegama, David W. Saffen, Sarah H. Elsea

Hum Mutat. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Hum Mutat. 2017 Dec; 38(12): 1774–1785. Published online 2017 Sep 23. doi: 10.1002/humu.23339

PMCID:: PMC5679464

Article PDF–732K

Select item 35559932.

Structural and Functional Analysis of the DEAF-1 and BS69 MYND Domains

Fatiha Kateb, Helene Perrin, Konstantinos Tripsianes, Peijian Zou, Roberta Spadaccini, Matthew Bottomley, Titus M. Franzmann, Johannes Buchner, Stephane Ansieau, Michael Sattler

PLoS One. 2013; 8(1): e54715. Published online 2013 Jan 25. doi: 10.1371/journal.pone.0054715

PMCID:: PMC3555993

Article PDF–1.2M

Select item 43039713.

Inflammation and Hyperglycemia Mediate Deaf1 Splicing in the Pancreatic Lymph Nodes via Distinct Pathways During Type 1 Diabetes

Linda Yip, Rebecca Fuhlbrigge, Cariel Taylor, Remi J. Creusot, Teppei Nishikawa-Matsumura, Chan C. Whiting, Jill M. Schartner, Rahima Akter, Matthias von Herrath, C. Garrison Fathman

Diabetes. 2015 Feb; 64(2): 604–617. Published online 2014 Sep 2. doi: 10.2337/db14-0803

PMCID:: PMC4303971

Article PDF–1.0M

Select item 33077284.

Deformed Epidermal Autoregulatory Factor-1 (DEAF1) Interacts with the Ku70 Subunit of the DNA-Dependent Protein Kinase Complex

Philip J. Jensik, Jodi I. Huggenvik, Michael W. Collard

PLoS One. 2012; 7(3): e33404. Published online 2012 Mar 19. doi: 10.1371/journal.pone.0033404

PMCID:: PMC3307728

Article PDF–745K

Select item 26454715.

Gender-Specific Decrease in NUDR and 5-HT_1A Receptor Proteins in the Prefrontal Cortex of Subjects with Major Depressive Disorder

Bernadeta Szewczyk, Paul R. Albert, Ariel M. Burns, Margaret Czesak, James C. Overholser, George J. Jurjus, Herbert Y. Meltzer, Lisa C. Konick, Lesa Dieter, Nicole Herbst, Warren May, Grazyna Rajkowska, Craig A. Stockmeier, Mark C. Austin

Int J Neuropsychopharmacol. Author manuscript; available in PMC 2009 Mar 1.

Published in final edited form as: Int J Neuropsychopharmacol. 2009 Mar; 12(2): 155–168. Published online 2008 Jun 19. doi: 10.1017/S1461145708009012

PMCID:: PMC2645471

Article PDF–569K

Select item 106476746.

Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3β

Emerson F. Harkin, Georges Nasrallah, Brice Le François, Paul R. Albert

Int J Mol Sci. 2023 Nov; 24(21): 15620. Published online 2023 Oct 26. doi: 10.3390/ijms242115620

PMCID:: PMC10647674

Article PDF–2.4M

Select item 68603637.

Functional Analysis of the Osteoarthritis Susceptibility–Associated GDF5 Regulatory Polymorphism

Rainer J. Egli, Lorraine Southam, James M. Wilkins, Inken Lorenzen, Manuel Pombo-Suarez, Antonio Gonzalez, Andrew Carr, Kay Chapman, John Loughlin

Arthritis Rheum. Author manuscript; available in PMC 2019 Nov 18.

Published in final edited form as: Arthritis Rheum. 2009 Jul; 60(7): 2055–2064. doi: 10.1002/art.24616

PMCID:: PMC6860363

Article PDF–1.3M

Select item 47055548.

Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain

Li Chen, Yu Tao, Fan Song, Xi Yuan, Jian Wang, David Saffen

Sci Rep. 2016; 6: 19010. Published online 2016 Jan 8. doi: 10.1038/srep19010

PMCID:: PMC4705554

Article PDF–1.9M

Select item 40675659.

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

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

Am J Hum Genet. 2014 May 1; 94(5): 649–661. doi: 10.1016/j.ajhg.2014.03.013

Correction in:: Am J Hum Genet. 2015 Jan 8; 96(1): 178.

PMCID:: PMC4067565

Article PDF–1.8M

Select item 338859910.

17β-estradiol-induced regulation of the novel 5-HT_1A-related transcription factors NUDR and Freud-1 in SH SY5Y Cells

Samuel O. Adeosun, Paul R. Albert, Mark C Austin, Abiye H. Iyo

Cell Mol Neurobiol. Author manuscript; available in PMC 2012 Jul 3.

Published in final edited form as: Cell Mol Neurobiol. 2012 May; 32(4): 517–521. Published online 2012 Feb 11. doi: 10.1007/s10571-012-9809-3

PMCID:: PMC3388599

Article PDF–779K

Select item 275213911.

Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes

Linda Yip, Leon Su, Deqiao Sheng, Pearl Chang, Mark Atkinson, Margaret Czesak, Paul R. Albert, Ai-Ris Collier, Shannon J. Turley, C. Garrison Fathman, Rémi J. Creusot

Nat Immunol. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Nat Immunol. 2009 Sep; 10(9): 1026–1033. Published online 2009 Aug 9. doi: 10.1038/ni.1773

PMCID:: PMC2752139

Article PDF–2.0M

Select item 257068612.

Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland

Holly E Barker, Gordon K Smyth, James Wettenhall, Teresa A Ward, Mary L Bath, Geoffrey J Lindeman, Jane E Visvader

BMC Dev Biol. 2008; 8: 94. Published online 2008 Oct 1. doi: 10.1186/1471-213X-8-94

PMCID:: PMC2570686

Article PDF–5.2M

Select item 679362013.

Cell-Specific Repressor or Enhancer Activities of Deaf-1 at a Serotonin 1A Receptor Gene Polymorphism

Margaret Czesak, Sylvie Lemonde, Erica A. Peterson, Anastasia Rogaeva, Paul R. Albert

J Neurosci. 2006 Feb 8; 26(6): 1864–1871. doi: 10.1523/JNEUROSCI.2643-05.2006

PMCID:: PMC6793620

Article PDF–419K

Select item 589355314.

Loss of MeCP2 in adult 5-HT neurons induces 5-HT1A autoreceptors, with opposite sex-dependent anxiety and depression phenotypes

Tristan J. Philippe, Faranak Vahid-Ansari, Zoe R. Donaldson, Brice Le François, Amin Zahrai, Valérie Turcotte-Cardin, Mireille Daigle, Jonathan James, René Hen, Zul Merali, Paul R. Albert

Sci Rep. 2018; 8: 5788. Published online 2018 Apr 10. doi: 10.1038/s41598-018-24167-8

PMCID:: PMC5893553

Article PDF–4.0M

Select item 584849415.

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Seth I. Berger, Carla Ciccone, Karen L. Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J. Introne, Andrea Gropman, Jan K. Blancato, James C. Mullikin, NISC Comparative Sequencing Program, William A. Gahl, Marjan Huizing, Ann C. M. Smith

Hum Genet. Author manuscript; available in PMC 2018 Mar 13.

Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 409–420. Published online 2017 Feb 17. doi: 10.1007/s00439-017-1767-x

PMCID:: PMC5848494

Article PDF–880K

Select item 288588516.

Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells

Bin Gu, Jiarong Zhang, Qi Chen, Bo Tao, Wei Wang, Yang Zhou, Liangbiao Chen, Yusen Liu, Ming Zhang

Biochem Biophys Res Commun. Author manuscript; available in PMC 2010 Jun 15.

Published in final edited form as: Biochem Biophys Res Commun. 2010 Apr 2; 394(2): 418–423. Published online 2010 Mar 10. doi: 10.1016/j.bbrc.2010.03.042