PMC Links for Protein (Select 86788015) - PMC

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 38293666.

Fibulin-3, -4, and -5 Are Highly Susceptible to Proteolysis, Interact with Cells and Heparin, and Form Multimers

Jelena Djokic, Christine Fagotto-Kaufmann, Rainer Bartels, Valentin Nelea, Dieter P. Reinhardt

J Biol Chem. 2013 Aug 2; 288(31): 22821–22835. Published online 2013 Jun 19. doi: 10.1074/jbc.M112.439158

PMCID:: PMC3829366

Abstract Article PDF–3.7M

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