PMC Links for Protein (Select 428978472) - PMC

Select item 55316111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 42820792.

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

E Pohler, M Huber, SE Boonen, M Zamiri, PA Gregersen, M Sommerlund, M Ramsing, D Hohl, WHI McLean, FJD Smith

Br J Dermatol. 2014 Aug; 171(2): 433–436. Published online 2014 Aug 7. doi: 10.1111/bjd.12927

PMCID:: PMC4282079

Article PDF–405K

Select item 38361663.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn, Toshifumi Nomura, Alan D. Irvine, Benvon E. Moran, Neil J. Wilson, Frances J. D. Smith, Christabelle S. M Goh, Aileen Sandilands, Christian Cole, Geoffrey J. Barton, Alan T. Evans, Hiroshi Shimizu, Masashi Akiyama, Akihiro Suehiro, Izumi Konohana, Mohammad Shboul, Sebastien Teissier, Lobna Boussofara, Mohamed Denguezli, Ali Saad, Moez Gribaa, Patricia J. Dopping-Hepenstal, John A McGrath, Sara J. Brown, David R. Goudie, Bruno Reversade, Colin S. Munro, W. H. Irwin McLean

Nat Genet. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 10.1038/ng.2444. Published online 2012 Oct 14. doi: 10.1038/ng.2444

PMCID:: PMC3836166

Abstract Article PDF–1.2M

Select item 34845074.

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Kathrin A. Giehl, Gertrud N. Eckstein, Sandra M. Pasternack, Silke Praetzel-Wunder, Thomas Ruzicka, Peter Lichtner, Kerstin Seidl, Mike Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun-Falco, Regina C. Betz, Tim M. Strom

Am J Hum Genet. 2012 Oct 5; 91(4): 754–759. doi: 10.1016/j.ajhg.2012.08.024

PMCID:: PMC3484507

Abstract Article PDF–483K

Select item 31793165.

Polymorphisms in Predicted miRNA Binding Sites and Osteoporosis

Shu-Feng Lei, Christopher J Papasian, Hong-Wen Deng

J Bone Miner Res. 2011 Jan; 26(1): 72–78. Published online 2010 Jul 16. doi: 10.1002/jbmr.186

PMCID:: PMC3179316

Abstract Article PDF–109K

Select item 21694936.

γ-Synergin: An Eh Domain–Containing Protein That Interacts with γ-Adaptin

Lesley J. Page, Penelope J. Sowerby, Winnie W.Y. Lui, Margaret S. Robinson

J Cell Biol. 1999 Sep 6; 146(5): 993–1004. doi: 10.1083/jcb.146.5.993

PMCID:: PMC2169493

Abstract Article PDF–1.9M

Select item 10837327.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

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