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Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 62920572.

Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family

Kaiyan Zhang, Xuyang Sun, Yingying Chen, Qionglei Zhong, Lin Lin, Yuan Gao, Fanlin Hong

BMC Ophthalmol. 2018; 18: 318. Published online 2018 Dec 12. doi: 10.1186/s12886-018-0988-7

PMCID:: PMC6292057

Abstract Article PDF–7.7M

Select item 61072913.

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Ying Chen, Melissa A. Gilbert, Christopher M. Grochowski, Deborah McEldrew, Jessica Llewellyn, Orith Waisbourd-Zinman, Hakon Hakonarson, Joan E. Bailey-Wilson, Pierre Russo, Rebecca G. Wells, Kathleen M. Loomes, Nancy B. Spinner, Marcella Devoto

PLoS Genet. 2018 Aug; 14(8): e1007532. Published online 2018 Aug 13. doi: 10.1371/journal.pgen.1007532

PMCID:: PMC6107291

Abstract Article PDF–3.0M

Select item 2319184.

An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis.

B Lecka-Czernik, C K Lumpkin, Jr, S Goldstein

Mol Cell Biol. 1995 Jan; 15(1): 120–128. doi: 10.1128/mcb.15.1.120

PMCID:: PMC231918

Summary PDF–410K

Select item 1305875.

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

Lihua Y. Marmorstein, Francis L. Munier, Yvan Arsenijevic, Daniel F. Schorderet, Precious J. McLaughlin, Daniel Chung, Elias Traboulsi, Alan D. Marmorstein

Proc Natl Acad Sci U S A. 2002 Oct 1; 99(20): 13067–13072. Published online 2002 Sep 19. doi: 10.1073/pnas.202491599

PMCID:: PMC130587

Abstract Article PDF–682K

Select item 68567136.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, James A. Poulter, Susan M. Downes, Martin McKibbin, Kamron N. Khan, Chris F. Inglehearn, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides, Paul N. Bishop, Simon J. Clark, Graeme C. Black, United Kingdom Inherited Retinal Dystrophy Consortium

Ophthalmology. 2019 Oct; 126(10): 1410–1421. doi: 10.1016/j.ophtha.2019.03.013

PMCID:: PMC6856713

Abstract Article

Select item 66594397.

European mtDNA Variants Are Associated With Differential Responses to Cisplatin, an Anticancer Drug: Implications for Drug Resistance and Side Effects

Tej H. Patel, Lucas Norman, Steven Chang, Sina Abedi, Catherine Liu, Marilyn Chwa, Shari R. Atilano, Kunal Thaker, Stephanie Lu, S. Michal Jazwinski, Michael V. Miceli, Nitin Udar, Daniela Bota, M. Cristina Kenney

Front Oncol. 2019; 9: 640. Published online 2019 Jul 19. doi: 10.3389/fonc.2019.00640

PMCID:: PMC6659439

Abstract Article PDF–1.8M

Select item 64979778.

WFDC2 contributes to epithelial–mesenchymal transition (EMT) by activating AKT signaling pathway and regulating MMP-2 expression

Yao Chen, Liping Huang, Suihai Wang, Ji-Liang Li, Ming Li, Yingsong Wu, Tiancai Liu

Cancer Manag Res. 2019; 11: 2415–2424. Published online 2019 Mar 27. doi: 10.2147/CMAR.S192950

Retraction in:: Cancer Manag Res. 2022; 14: 1471–1472.

PMCID:: PMC6497977

Abstract Article

Select item 60456269.

RETRACTED ARTICLE: Fibulin-3 knockdown inhibits cervical cancer cell growth and metastasis in vitro and in vivo

Juan Li, Chen Qi, Xia Liu, Changzhong Li, Jie Chen, Min Shi

Sci Rep. 2018; 8: 10594. Published online 2018 Jul 13. doi: 10.1038/s41598-018-28906-9

Retraction in:: Sci Rep. 2023; 13: 11162.

PMCID:: PMC6045626

Abstract Article

Select item 602607610.

Influence of lipopolysaccharide on proinflammatory gene expression in human corneal, conjunctival and meibomian gland epithelial cells

Di Chen, Afsun Sahin, Wendy R. Kam, Yang Liu, Raheleh Rahimi Darabad, David A. Sullivan

Ocul Surf. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Ocul Surf. 2018 Jul; 16(3): 382–389. Published online 2018 May 31. doi: 10.1016/j.jtos.2018.05.003

PMCID:: PMC6026076

Abstract Article PDF–396K

Select item 586566711.

Dysregulation of fibulin-5 and matrix metalloproteases in epithelial ovarian cancer

Dustin B. Manders, Hari Annavarapu Kishore, Adi F. Gazdar, Patrick W. Keller, Jun Tsunezumi, Hiromi Yanagisawa, Jayanthi Lea, Ruth Ann Word

Oncotarget. 2018 Mar 6; 9(18): 14251–14267. Published online 2018 Feb 14. doi: 10.18632/oncotarget.24484

PMCID:: PMC5865667

Abstract Article PDF–4.0M

Select item 575572412.

Dysregulation of AKT3 along with a small panel of mRNAs stratifies high-grade serous ovarian cancer from both normal epithelia and benign tumor tissues

Pourya Naderi Yeganeh, Christine Richardson, Zahra Bahrani-Mostafavi, David L. Tait, M. Taghi Mostafavi

Genes Cancer. 2017 Nov; 8(11-12): 784–798. doi: 10.18632/genesandcancer.164

PMCID:: PMC5755724

Abstract Article PDF–2.6M

Select item 521699013.

EFEMP1 promotes ovarian cancer cell growth, invasion and metastasis via activated the AKT pathway

Xiuxiu Yin, Shuang Fang, Mei Wang, Qiang Wang, Rui Fang, Jie Chen

Oncotarget. 2016 Jul 26; 7(30): 47938–47953. Published online 2016 Jun 25. doi: 10.18632/oncotarget.10296

PMCID:: PMC5216990

Abstract Article PDF–11M

Select item 467866114.

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

BMC Res Notes. 2015; 8: 785. Published online 2015 Dec 15. doi: 10.1186/s13104-015-1783-7

PMCID:: PMC4678661

Abstract Article PDF–1.4M

Select item 451262215.

Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes

Shari R. Atilano, Deepika Malik, Marilyn Chwa, Javier Cáceres-Del-Carpio, Anthony B. Nesburn, David S. Boyer, Baruch D. Kuppermann, S. Michal Jazwinski, Michael V. Miceli, Douglas C. Wallace, Nitin Udar, M. Cristina Kenney

Hum Mol Genet. 2015 Aug 15; 24(16): 4491–4503. Published online 2015 May 10. doi: 10.1093/hmg/ddv173

PMCID:: PMC4512622

Abstract Article PDF–1.7M

Select item 406468816.

Serum-Induced Differentiation of Human Meibomian Gland Epithelial Cells

David A. Sullivan, Yang Liu, Wendy R. Kam, Juan Ding, Karin M. Green, Scott A. Shaffer, Mark P. Hatton, Shaohui Liu

Invest Ophthalmol Vis Sci. 2014 Jun; 55(6): 3866–3877. Published online 2014 Jun 19. doi: 10.1167/iovs.13-13407

PMCID:: PMC4064688

Abstract Article PDF–505K

Select item 405332917.

Human Retinal Transmitochondrial Cybrids with J or H mtDNA Haplogroups Respond Differently to Ultraviolet Radiation: Implications for Retinal Diseases

Deepika Malik, Tiffany Hsu, Payam Falatoonzadeh, Javier Cáceres-del-Carpio, Mohamed Tarek, Marilyn Chwa, Shari R. Atilano, Claudio Ramirez, Anthony B. Nesburn, David S. Boyer, Baruch D. Kuppermann, S. Michal Jazwinski, Michael V. Miceli, Douglas C. Wallace, Nitin Udar, M. Cristina Kenney

PLoS One. 2014; 9(6): e99003. Published online 2014 Jun 11. doi: 10.1371/journal.pone.0099003

PMCID:: PMC4053329

Abstract Article PDF–897K

Select item 399631618.

Extracellular Matrix Proteins Expression Profiling in Chemoresistant Variants of the A2780 Ovarian Cancer Cell Line

Radosław Januchowski, Piotr Zawierucha, Marcin Ruciński, Michał Nowicki, Maciej Zabel

Biomed Res Int. 2014; 2014: 365867. Published online 2014 Apr 3. doi: 10.1155/2014/365867

PMCID:: PMC3996316

Abstract Article PDF–3.9M

Select item 378997119.

Interleukin-4 Induces Senescence in Human Renal Carcinoma Cell Lines through STAT6 and p38 MAPK

Hag Dong Kim, Su-Jin Yu, Hee Suk Kim, Yong-Jin Kim, Jeong Min Choe, Yun Gyu Park, Joon Kim, Jeongwon Sohn

J Biol Chem. 2013 Oct 4; 288(40): 28743–28754. Published online 2013 Aug 9. doi: 10.1074/jbc.M113.499053

PMCID:: PMC3789971

Abstract Article PDF–2.0M

Select item 351659620.

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess, Monica Bodria, Matthew G. Sampson, Dexter Hadley, Shannon N. Nees, Miguel Verbitsky, Brittany J. Perry, Roel Sterken, Vladimir J. Lozanovski, Anna Materna-Kiryluk, Cristina Barlassina, Akshata Kini, Valentina Corbani, Alba Carrea, Danio Somenzi, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Beatrice Bianco, Marcin Zaniew, Hana Flogelova, Patricia L. Weng, Nilgun Kacak, Stefania Giberti, Maddalena Gigante, Adela Arapovic, Kristina Drnasin, Gianluca Caridi, Simona Curioni, Franca Allegri, Anita Ammenti, Stefania Ferretti, Vinicio Goj, Luca Bernardo, Vaidehi Jobanputra, Wendy K. Chung, Richard P. Lifton, Stephan Sanders, Matthew State, Lorraine N. Clark, Marijan Saraga, Sandosh Padmanabhan, Anna F. Dominiczak, Tatiana Foroud, Loreto Gesualdo, Zoran Gucev, Landino Allegri, Anna Latos-Bielenska, Daniele Cusi, Francesco Scolari, Velibor Tasic, Hakon Hakonarson, Gian Marco Ghiggeri, Ali G. Gharavi

Am J Hum Genet. 2012 Dec 7; 91(6): 987–997. doi: 10.1016/j.ajhg.2012.10.007

PMCID:: PMC3516596

Abstract Article PDF–259K

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