PMC Links for Nucleotide (Select 1675005068) - PMC

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Items: 10

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 66594396.

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 53863887.

Stability of the cancer target DDIAS is regulated by the CHIP/HSP70 pathway in lung cancer cells

Kyoung-Jae Won, Joo-Young Im, Bo-Kyung Kim, Hyun Seung Ban, Young-Jin Jung, Kyeong Eun Jung, Misun Won

Cell Death Dis. 2017 Jan; 8(1): e2554. Published online 2017 Jan 12. doi: 10.1038/cddis.2016.488

PMCID:: PMC5386388

Abstract Article PDF–1.8M

Select item 45126228.

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 40533299.

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 320428710.

EFEMP1 suppresses malignant glioma growth and exerts its action within the tumor extracellular compartment

Yuanjie Hu, Peter Dion Pioli, Eric Siegel, Qinghua Zhang, Jodi Nelson, Abhishek Chaturbedi, Marlon S Mathews, Daniel I Ro, Selma Alkafeef, Nelson Hsu, Mark Hamamura, Liping Yu, Kenneth R Hess, Bruce J Tromberg, Mark E Linskey, Yi-Hong Zhou

Mol Cancer. 2011; 10: 123. Published online 2011 Sep 28. doi: 10.1186/1476-4598-10-123