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Items: 1 to 20 of 31

1.
A Polymorphism in the Promoter of FRAS1 is a Candidate SNP Associated with Metastatic Prostate Cancer
Victoria Wang, Milan S. Geybels, Kristina M. Jordahl, Travis Gerke, Anis Hamid, Kathryn L. Penney, Sarah C. Markt, Matthew Freedman, Mark Pomerantz, Gwo-Shu Mary Lee, Huma Rana, Daniela Börnigen, Timothy R. Rebbeck, Curtis Huttenhower, Ros A Eeles, Janet L. Stanford, PRACTICAL Consortium, Lorelei Mucci, Christopher J. Sweeney
Prostate. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Prostate. 2021 Jul; 81(10): 683–693. Published online 2021 May 6. doi: 10.1002/pros.24148
PMCID:
PMC8491321
AbstractArticlePDF–697K
2.
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
J Gattuso, M A Patton, M Baraitser
J Med Genet. 1987 Sep; 24(9): 549–555. doi: 10.1136/jmg.24.9.549
PMCID:
PMC1050267
SummaryPage BrowsePDF–1.3M
3.
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Pawaree Saisawat, Velibor Tasic, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt
Kidney Int. Author manuscript; available in PMC 2013 Nov 21.
Published in final edited form as: Kidney Int. 2012 Jan; 81(2): 10.1038/ki.2011.315. Published online 2011 Sep 7. doi: 10.1038/ki.2011.315
PMCID:
PMC3836012
AbstractArticlePDF–1.0M
4.
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls
Wei-Dong Li, Hongxiao Jiao, Kai Wang, Clarence Zhang, Joseph T. Glessner, Struan F.A. Grant, Hongyu Zhao, Hakon Hakonarson, R. Arlen Price
Obesity (Silver Spring) Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Obesity (Silver Spring). 2013 Sep; 21(9): E490–E494. Published online 2013 May 24. doi: 10.1002/oby.20303
PMCID:
PMC3762924
AbstractArticlePDF–308K
5.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia
Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott
Hum Mol Genet. 2018 Jun 15; 27(12): 2064–2075. Published online 2018 Mar 28. doi: 10.1093/hmg/ddy110
PMCID:
PMC5985720
AbstractArticlePDF–810K
6.
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt
J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103
PMCID:
PMC4147986
AbstractArticle
7.
Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P. McEvoy, Allan F. McRae, Gu Zhu, Scott D. Gordon, Manuel A.R. Ferreira, Margaret J. Wright, Anjali K. Henders, Megan J. Campbell, David L. Duffy, Narelle K. Hansell, Stuart Macgregor, Wendy S. Slutske, Andrew C. Heath, Grant W. Montgomery, Nicholas G. Martin
Am J Hum Genet. 2009 Nov 13; 85(5): 750–755. doi: 10.1016/j.ajhg.2009.10.009
PMCID:
PMC2775823
AbstractArticlePDF–317K
8.
Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities
Sophia J Docherty, Yulia Kovas, Stephen A Petrill, Robert Plomin
BMC Genet. 2010; 11: 61. Published online 2010 Jul 5. doi: 10.1186/1471-2156-11-61
PMCID:
PMC2909150
AbstractArticlePDF–587K
9.
EZH2 and BCL6 Cooperate to Assemble CBX8-BCOR Complex to Repress Bivalent Promoters, Mediate Germinal Center Formation and Lymphomagenesis
Wendy Béguelin, Matt Teater, Micah D. Gearhart, María Teresa Calvo Fernández, Rebecca L. Goldstein, Mariano G. Cárdenas, Katerina Hatzi, Monica Rosen, Hao Shen, Connie M. Corcoran, Michelle Y. Hamline, Randy D. Gascoyne, Ross L. Levine, Omar Abdel-Wahab, Jonathan D. Licht, Rita Shaknovich, Olivier Elemento, Vivian J. Bardwell, Ari M. Melnick
Cancer Cell. Author manuscript; available in PMC 2017 Aug 8.
Published in final edited form as: Cancer Cell. 2016 Aug 8; 30(2): 197–213. doi: 10.1016/j.ccell.2016.07.006
PMCID:
PMC5000552
AbstractArticlePDF–4.1M
10.
Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation
Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee
Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572
PMCID:
PMC8307194
AbstractArticlePDF–2.8M
11.
TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination
Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan
Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911
PMCID:
PMC7392491
AbstractArticlePDF–14M
12.
Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome
Gerald Dayebgadoh, Mihaela E. Sardiu, Laurence Florens, Michael P. Washburn
J Proteome Res. Author manuscript; available in PMC 2020 Jun 15.
Published in final edited form as: J Proteome Res. 2019 Sep 6; 18(9): 3479–3491. Published online 2019 Aug 9. doi: 10.1021/acs.jproteome.9b00373
PMCID:
PMC7295179
AbstractArticlePDF–2.6M
13.
Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia
Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray
PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493
PMCID:
PMC2901336
AbstractArticlePDF–778K
14.
Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane
Molly M. Hannigan, Alyson M. Hoffman, J. Will Thompson, Tianli Zheng, Christopher V. Nicchitta
Mol Cell Proteomics. 2020 Nov; 19(11): 1826–1849. Published online 2020 Aug 10. doi: 10.1074/mcp.RA120.002228
PMCID:
PMC7664120
AbstractArticlePDF–4.8M
15.
The cell proliferation antigen Ki-67 organises heterochromatin
Michal Sobecki, Karim Mrouj, Alain Camasses, Nikolaos Parisis, Emilien Nicolas, David Llères, François Gerbe, Susana Prieto, Liliana Krasinska, Alexandre David, Manuel Eguren, Marie-Christine Birling, Serge Urbach, Sonia Hem, Jérôme Déjardin, Marcos Malumbres, Philippe Jay, Vjekoslav Dulic, Denis LJ Lafontaine, Robert Feil, Daniel Fisher
eLife. 2016; 5: e13722. Published online 2016 Mar 7. doi: 10.7554/eLife.13722
PMCID:
PMC4841783
AbstractArticlePDF–5.1M
16.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
AbstractArticlePDF–3.1M
17.
Acetylation of ELF5 suppresses breast cancer progression by promoting its degradation and targeting CCND1
Xiahui Li, Shujing Li, Bowen Li, Yanan Li, Sattout Aman, Kangkai Xia, Yuxi Yang, Bashir Ahmad, Huijian Wu
NPJ Precis Oncol. 2021; 5: 20. Published online 2021 Mar 19. doi: 10.1038/s41698-021-00158-3
PMCID:
PMC7979705
AbstractArticlePDF–6.8M
18.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
19.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
20.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M

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