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Items: 1 to 20 of 74

1.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse. J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret Au, Susan A. Berry, Kevin M. Bowling, Jackie Boyle, Julien Buratti, Sara S. Cathey, Perrine Charles, Benjamin Cogne, Thomas Courtin, Luis F. Escobar, Sabra Ledare Finley, John M. Graham, Jr, Dorothy K. Grange, Delphine Heron, Stacy Hewson, Susan M. Hiatt, Kathleen A. Hibbs, Parul Jayakar, Louisa Kalsner, Lise Larcher, Gaetan Lesca, Paul R. Mark, Kathryn Miller, Caroline Nava, Mathilde Nizon, G. Shashidhar Pai, John Pappas, Gretchen Parsons, Katelyn Payne, Audrey Putoux, Rachel Rabin, Isabelle Sabatier, Marwan Shinawi, Natasha Shur, Steven A. Skinner, Stephanie Valence, Hannah Warren, Sandra Whalen, Amy Crunk, Ganka Douglas, Kristin G. Monaghan, Richard E. Person, Rebecca Willaert, Benjamin D. Solomon, Jane Juusola
Genet Med. Author manuscript; available in PMC 2020 Apr 21.
Published in final edited form as: Genet Med. 2019 Sep; 21(9): 2036–2042. Published online 2019 Feb 11. doi: 10.1038/s41436-019-0454-9
PMCID:
PMC7171701
AbstractArticlePDF–780K
2.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Genome Med. 2019; 11: 12. Published online 2019 Feb 28. doi: 10.1186/s13073-019-0623-0
Correction in:
Genome Med. 2019; 11: 16.
PMCID:
PMC6393995
AbstractArticlePDF–1.5M
3.
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, Thomas Wieland, Alexander M Zink, Sarah Kim, Isabelle C Windheuser, Martina Kreiß, Stefan Aretz, Tim M Strom, Dagmar Wieczorek, Hartmut Engels
Eur J Hum Genet. 2016 Dec; 24(12): 1739–1745. Published online 2016 Jul 20. doi: 10.1038/ejhg.2016.90
PMCID:
PMC5117939
AbstractArticlePDF–739K
4.
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie
J Med Genet. 2014 Nov; 51(11): 737–747. Published online 2014 Sep 16. doi: 10.1136/jmedgenet-2014-102582
PMCID:
PMC4215269
AbstractArticlePDF–4.2M
5.
Chromosome 17q12 variants contribute to risk of early-onset prostate cancer
Albert M. Levin, Mitchell J. Machiela, Kimberly A. Zuhlke, Anna M. Ray, Kathleen A. Cooney, Julie A. Douglas
Cancer Res. Author manuscript; available in PMC 2009 Aug 15.
Published in final edited form as: Cancer Res. 2008 Aug 15; 68(16): 6492–6495. doi: 10.1158/0008-5472.CAN-08-0348
PMCID:
PMC2562290
AbstractArticlePDF–298K
6.
A Phylogenetic Study of SPBP and RAI1: Evolutionary Conservation of Chromatin Binding Modules
Sagar Darvekar, Cecilie Rekdal, Terje Johansen, Eva Sjøttem
PLoS One. 2013; 8(10): e78907. Published online 2013 Oct 18. doi: 10.1371/journal.pone.0078907
PMCID:
PMC3799622
AbstractArticlePDF–1.8M
7.
SPBP Is a Phosphoserine-Specific Repressor of Estrogen Receptor α
Valentina Gburcik, Nathalie Bot, Marcello Maggiolini, Didier Picard
Mol Cell Biol. 2005 May; 25(9): 3421–3430. doi: 10.1128/MCB.25.9.3421-3430.2005
PMCID:
PMC1084313
AbstractArticlePDF–401K
8.
Prevalence and architecture of de novo mutations in developmental disorders
The Deciphering Developmental Disorders Study
Nature. Author manuscript; available in PMC 2018 Jun 25.
Published in final edited form as: Nature. 2017 Feb 23; 542(7642): 433–438. Published online 2017 Jan 25. doi: 10.1038/nature21062
PMCID:
PMC6016744
AbstractArticlePDF–4.1M
9.
SPBP Is a Sulforaphane Induced Transcriptional Coactivator of NRF2 Regulating Expression of the Autophagy Receptor p62/SQSTM1
Sagar Ramesh Darvekar, Julianne Elvenes, Hanne Britt Brenne, Terje Johansen, Eva Sjøttem
PLoS One. 2014; 9(1): e85262. Published online 2014 Jan 9. doi: 10.1371/journal.pone.0085262
PMCID:
PMC3887019
AbstractArticlePDF–1.5M
10.
Pax6 Represses Androgen Receptor-Mediated Transactivation by Inhibiting Recruitment of the Coactivator SPBP
Julianne Elvenes, Ernst Ivan Simon Thomassen, Sylvia Sagen Johnsen, Katrine Kaino, Eva Sjøttem, Terje Johansen
PLoS One. 2011; 6(9): e24659. Published online 2011 Sep 15. doi: 10.1371/journal.pone.0024659
PMCID:
PMC3174178
AbstractArticlePDF–1.5M
11.
The ePHD protein SPBP interacts with TopBP1 and together they co-operate to stimulate Ets1-mediated transcription
Eva Sjøttem, Cecilie Rekdal, Gunbjørg Svineng, Sylvia Sagen Johnsen, Helle Klenow, Rebecca Dale Uglehus, Terje Johansen
Nucleic Acids Res. 2007 Oct; 35(19): 6648–6662. Published online 2007 Oct 2. doi: 10.1093/nar/gkm739
PMCID:
PMC2095823
AbstractArticlePDF–1.9M
12.
Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in Type 2 Diabetes in a Chinese population
Xueyao Han, Yingying Luo, Qian Ren, Xiuying Zhang, Fang Wang, Xiuqin Sun, Xianghai Zhou, Linong Ji
BMC Med Genet. 2010; 11: 81. Published online 2010 May 28. doi: 10.1186/1471-2350-11-81
PMCID:
PMC2896346
AbstractArticlePDF–901K
13.
Investigation of Type 2 Diabetes Risk Alleles Support CDKN2A/B, CDKAL1, and TCF7L2 As Susceptibility Genes in a Han Chinese Cohort
Jie Wen, Tina Rönn, Anders Olsson, Zhen Yang, Bin Lu, Yieping Du, Leif Groop, Charlotte Ling, Renming Hu
PLoS One. 2010; 5(2): e9153. Published online 2010 Feb 10. doi: 10.1371/journal.pone.0009153
PMCID:
PMC2818850
AbstractArticlePDF–90K
14.
Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic variation
Seong-Tae Kim, Yu Cheng, Fang-Chi Hsu, Tao Jin, A. Karim Kader, S. Lilly Zheng, William B. Isaacs, Jianfeng Xu, Jielin Sun
Prostate. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Prostate. 2010 Dec 1; 70(16): 1729–1738. doi: 10.1002/pros.21208
PMCID:
PMC3013361
AbstractArticlePDF–362K
15.
Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations
Georgia Salanti, Lorraine Southam, David Altshuler, Kristin Ardlie, Inês Barroso, Michael Boehnke, Marilyn C. Cornelis, Timothy M. Frayling, Harald Grallert, Niels Grarup, Leif Groop, Torben Hansen, Andrew T. Hattersley, Frank B. Hu, Kristian Hveem, Thomas Illig, Johanna Kuusisto, Markku Laakso, Claudia Langenberg, Valeriya Lyssenko, Mark I. McCarthy, Andrew Morris, Andrew D. Morris, Colin N. A. Palmer, Felicity Payne, Carl G. P. Platou, Laura J. Scott, Benjamin F. Voight, Nicholas J. Wareham, Eleftheria Zeggini, John P. A. Ioannidis
Am J Epidemiol. 2009 Sep 1; 170(5): 537–545. Published online 2009 Jul 14. doi: 10.1093/aje/kwp145
PMCID:
PMC2732984
AbstractArticlePDF–203K
16.
Assessing the Combined Impact of 18 Common Genetic Variants of Modest Effect Sizes on Type 2 Diabetes Risk
Hana Lango, the U.K. Type 2 Diabetes Genetics Consortium, Colin N.A. Palmer, Andrew D. Morris, Eleftheria Zeggini, Andrew T. Hattersley, Mark I. McCarthy, Timothy M. Frayling, Michael N. Weedon
Diabetes. 2008 Nov; 57(11): 3129–3135. doi: 10.2337/db08-0504
PMCID:
PMC2570411
AbstractArticlePDF–555K
17.
Use of Multiple Metabolic and Genetic Markers to Improve the Prediction of Type 2 Diabetes: the EPIC-Potsdam Study
Matthias B. Schulze, Cornelia Weikert, Tobias Pischon, Manuela M. Bergmann, Hadi Al-Hasani, Erwin Schleicher, Andreas Fritsche, Hans-Ulrich Häring, Heiner Boeing, Hans-Georg Joost
Diabetes Care. 2009 Nov; 32(11): 2116–2119. Published online 2009 Aug 31. doi: 10.2337/dc09-0197
PMCID:
PMC2768223
AbstractArticlePDF–67K
18.
Molecular characterization of a novel transcription factor that controls stromelysin expression.
L Sanz, J Moscat, M T Diaz-Meco
Mol Cell Biol. 1995 Jun; 15(6): 3164–3170. doi: 10.1128/mcb.15.6.3164
PMCID:
PMC230548
SummaryPDF–476K
19.
Obesity and diabetes genetic variants associated with gestational weight gain
Alison M. Stuebe, Helen Lyon, Amy Herring, Joyee Ghosh, Alison Wise, Kari E. North, Anna Maria Siega-Riz
Am J Obstet Gynecol. Author manuscript; available in PMC 2011 Nov 22.
Published in final edited form as: Am J Obstet Gynecol. 2010 Sep; 203(3): 283.e1–283.17. doi: 10.1016/j.ajog.2010.06.069
PMCID:
PMC3222335
AbstractArticlePDF–2.7M
20.
Agonist-specific Protein Interactomes of Glucocorticoid and Androgen Receptor as Revealed by Proximity Mapping
Joanna K. Lempiäinen, Einari A. Niskanen, Kaisa-Mari Vuoti, Riikka E. Lampinen, Helka Göös, Markku Varjosalo, Jorma J. Palvimo
Mol Cell Proteomics. 2017 Aug; 16(8): 1462–1474. Published online 2017 Jun 13. doi: 10.1074/mcp.M117.067488
PMCID:
PMC5546198
AbstractArticlePDF–3.1M

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