PMC Links for Gene (Select 2121) - PMC

Select item 44623931.

Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia

Ryutaro Takahashi, Makoto Yamagishi, Kazumi Nakano, Toshiko Yamochi, Tadanori Yamochi, Dai Fujikawa, Makoto Nakashima, Yuetsu Tanaka, Kaoru Uchimaru, Atae Utsunomiya, Toshiki Watanabe

Cancer Sci. 2014 Sep; 105(9): 1160–1169. Published online 2014 Sep 8. doi: 10.1111/cas.12480

PMCID:: PMC4462393

Abstract Article PDF–3.2M

Select item 25846282.

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

Hakan Ulucan, Davut Gül, Julie C Sapp, John Cockerham, Jennifer J Johnston, Leslie G Biesecker

BMC Med Genet. 2008; 9: 92. Published online 2008 Oct 23. doi: 10.1186/1471-2350-9-92

PMCID:: PMC2584628

Abstract Article PDF–3.5M

Select item 57800923.

Molecular mechanisms of Ellis-van Creveld gene variations in ventricular septal defect

Fadi Liu, Xiao Liu, Zhenyan Xu, Ping Yuan, Qiongqiong Zhou, Jiejing Jin, Xia Yan, Zixuan Xu, Qing Cao, Jianhua Yu, Yingzhang Cheng, Rong Wan, Kui Hong

Mol Med Rep. 2018 Jan; 17(1): 1527–1536. Published online 2017 Nov 15. doi: 10.3892/mmr.2017.8088

PMCID:: PMC5780092

Abstract Article PDF–1.6M

Select item 57371154.

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E. Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz

Am J Case Rep. 2017; 18: 1325–1329. Published online 2017 Dec 12. doi: 10.12659/AJCR.905976

PMCID:: PMC5737115

Abstract Article PDF–4.4M

Select item 11802485.

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Victor L. Ruiz-Perez, Stuart W. J. Tompson, Helen J. Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship

Am J Hum Genet. 2003 Mar; 72(3): 728–732. Published online 2003 Feb 4. doi: 10.1086/368063

PMCID:: PMC1180248

Abstract Article PDF–323K

Select item 30522396.

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Helen J Blair, Stuart Tompson, Yu-Ning Liu, Jennifer Campbell, Katie MacArthur, Chris P Ponting, Victor L Ruiz-Perez, Judith A Goodship

BMC Biol. 2011; 9: 14. Published online 2011 Feb 28. doi: 10.1186/1741-7007-9-14

PMCID:: PMC3052239

Abstract Article PDF–3.6M

Select item 28746147.

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

Roxann G Ingersoll, Jacqueline Hetmanski, Ji-Wan Park, M Daniele Fallin, Iain McIntosh, Yah-Huei Wu-Chou, Philip K Chen, Vincent Yeow, Samuel S Chong, Felicia Cheah, Jae Woong Sull, Sun Ha Jee, Hong Wang, Tao Wu, Tanda Murray, Shangzhi Huang, Xiaoqian Ye, Ethylin Wang Jabs, Richard Redett, Gerald Raymond, Alan F Scott, Terri H Beaty

Eur J Hum Genet. 2010 Jun; 18(6): 726–732. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.228

PMCID:: PMC2874614

Abstract Article PDF–723K

Select item 26719898.

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease

Kristen Lipscomb Sund, Stephanie Roelker, Vijaya Ramachandran, Lisa Durbin, D. Woodrow Benson

Hum Mol Genet. 2009 May 15; 18(10): 1813–1824. Published online 2009 Feb 27. doi: 10.1093/hmg/ddp098

PMCID:: PMC2671989

Abstract Article PDF–729K

Select item 40270429.

EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia

Ganesh V. Pusapati, Casey E Hughes, Karolin V. Dorn, Dapeng Zhang, Priscilla Sugianto, L. Aravind, Rajat Rohatgi

Dev Cell. Author manuscript; available in PMC 2015 Mar 10.

Published in final edited form as: Dev Cell. 2014 Mar 10; 28(5): 483–496. Published online 2014 Feb 27. doi: 10.1016/j.devcel.2014.01.021

PMCID:: PMC4027042

Abstract Article PDF–3.9M

Select item 329186310.

A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants

Sha Tao, Zhong Wang, Junjie Feng, Fang-Chi Hsu, Guangfu Jin, Seong-Tae Kim, Zheng Zhang, Henrik Gronberg, Lilly S. Zheng, William B. Isaacs, Jianfeng Xu, Jielin Sun

Carcinogenesis. 2012 Mar; 33(3): 598–603. Published online 2012 Jan 4. doi: 10.1093/carcin/bgr316

PMCID:: PMC3291863

Abstract Article PDF–109K

Select item 290133611.

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

Abstract Article PDF–778K

Select item 549522512.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 294516813.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583214.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 582692615.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0