PMC Links for Protein (Select 37574614) - 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 60661882.

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

Orit Reish, Liam Aspit, Arielle Zouella, Yehudah Roth, Sylvie Polak-Charcon, Tatiana Baboushkin, Lilach Benyamini, Todd E. Scheetz, Huda Mussaffi, Val C. Sheffield, Ruti Parvari

Hum Mutat. Author manuscript; available in PMC 2018 Jul 30.

Published in final edited form as: Hum Mutat. 2016 Aug; 37(8): 727–731. Published online 2016 May 9. doi: 10.1002/humu.22998

PMCID:: PMC6066188

Abstract Article PDF–570K

Select item 48691703.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 40725754.

NME7 is a functional component of the γ-tubulin ring complex

Pengfei Liu, Yuk-Kwan Choi, Robert Z. Qi

Mol Biol Cell. 2014 Jul 1; 25(13): 2017–2025. doi: 10.1091/mbc.E13-06-0339

PMCID:: PMC4072575

Abstract Article PDF–2.5M

Select item 32479855.

Structural Requirements for Interaction of Peroxisomal Targeting Signal 2 and Its Receptor PEX7

Markus Kunze, Georg Neuberger, Sebastian Maurer-Stroh, Jianmin Ma, Thomas Eck, Nancy Braverman, Johannes A. Schmid, Frank Eisenhaber, Johannes Berger

J Biol Chem. 2011 Dec 30; 286(52): 45048–45062. Published online 2011 Nov 5. doi: 10.1074/jbc.M111.301853

PMCID:: PMC3247985

Abstract Article PDF–4.4M

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