PMC Links for Protein (Select 1812588795) - PMC

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Items: 12

Select item 64922421.

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

Emilse Bermejo, Maria F Alberto, David S Paul, Aaron A Cook, Paquita Nurden, Analia Sanchez Luceros, Alan Nurden, Wolfgang Bergmeier

Platelets. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Platelets. 2018 Jan; 29(1): 84–86. Published online 2017 Jul 20. doi: 10.1080/09537104.2017.1332759

PMCID:: PMC6492242

Abstract Article PDF–395K

Select item 59421492.

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis

Teresa Sevivas, José María Bastida, David S. Paul, Eva Caparros, Verónica Palma-Barqueros, Margarida Coucelo, Dalila Marques, Francisca Ferrer-Marín, José Ramón González-Porras, Vicente Vicente, Jesús María Hernández-Rivas, Steve P. Watson, María Luisa Lozano, Wolfgang Bergmeier, José Rivera

Platelets. 2018; 29(2): 192–195. Published online 2017 Aug 1. doi: 10.1080/09537104.2017.1336214

PMCID:: PMC5942149

Abstract Article PDF–1.0M

Select item 50095153.

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

María Luisa Lozano, Aaron Cook, José María Bastida, David S. Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J. Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P. Watson, Wolfgang Bergmeier, José Rivera

Blood. 2016 Sep 1; 128(9): 1282–1289. Prepublished online 2016 May 27. doi: 10.1182/blood-2015-11-683102

PMCID:: PMC5009515

Abstract Article

Select item 40765914.

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

Matthias Canault, Dorsaf Ghalloussi, Charlotte Grosdidier, Marie Guinier, Claire Perret, Nadjim Chelghoum, Marine Germain, Hana Raslova, Franck Peiretti, Pierre E. Morange, Noemie Saut, Xavier Pillois, Alan T. Nurden, François Cambien, Anne Pierres, Timo K. van den Berg, Taco W. Kuijpers, Marie-Christine Alessi, David-Alexandre Tregouet

J Exp Med. 2014 Jun 30; 211(7): 1349–1362. doi: 10.1084/jem.20130477

PMCID:: PMC4076591

Abstract Article PDF–3.1M

Select item 37286215.

Structural analysis of autoinhibition in the Ras-specific exchange factor RasGRP1

Jeffrey S Iwig, Yvonne Vercoulen, Rahul Das, Tiago Barros, Andre Limnander, Yan Che, Jeffrey G Pelton, David E Wemmer, Jeroen P Roose, John Kuriyan

eLife. 2013; 2: e00813. Published online 2013 Jul 30. doi: 10.7554/eLife.00813

PMCID:: PMC3728621

Abstract Article PDF–5.5M

Select item 28573846.

A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

Nikolay L Malinin, Li Zhang, Jeongsuk Choi, Alieta Ciocea, Olga Razorenova, Yan-Qing Ma, Eugene A Podrez, Michael Tosi, Donald P Lennon, Arnold I Caplan, Susan B Shurin, Edward F Plow, Tatiana V Byzova

Nat Med. Author manuscript; available in PMC 2010 Apr 20.

Published in final edited form as: Nat Med. 2009 Mar; 15(3): 313–318. Published online 2009 Feb 22. doi: 10.1038/nm.1917

PMCID:: PMC2857384

Abstract Article PDF–2.1M

Select item 26801407.

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation

Lena Svensson, Kimberley Howarth, Alison McDowall, Irene Patzak, Rachel Evans, Siegfried Ussar, Markus Moser, Ayse Metin, Mike Fried, Ian Tomlinson, Nancy Hogg

Nat Med. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: Nat Med. 2009 Mar; 15(3): 306–312. Published online 2009 Feb 22. doi: 10.1038/nm.1931

PMCID:: PMC2680140

Abstract Article PDF–1.3M

Select item 21186418.

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

Ronit Pasvolsky, Sara W. Feigelson, Sara Sebnem Kilic, Amos J. Simon, Guy Tal-Lapidot, Valentin Grabovsky, Jill R. Crittenden, Ninette Amariglio, Michal Safran, Ann M. Graybiel, Gideon Rechavi, Shifra Ben-Dor, Amos Etzioni, Ronen Alon

J Exp Med. 2007 Jul 9; 204(7): 1571–1582. doi: 10.1084/jem.20070058

PMCID:: PMC2118641

Abstract Article PDF–1.4M

Select item 20773169.

Essential role for Rap1 GTPase and its guanine exchange factor CalDAG-GEFI in LFA-1 but not VLA-4 integrin–mediated human T-cell adhesion

Haifa Ghandour, Xavier Cullere, Angeles Alvarez, Francis W. Luscinskas, Tanya N. Mayadas

Blood. 2007 Nov 15; 110(10): 3682–3690. Prepublished online 2007 Aug 16. doi: 10.1182/blood-2007-03-077628

PMCID:: PMC2077316

Abstract Article

Select item 52892810.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 2378211.

A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia

Hiroaki Kawasaki, Gregory M. Springett, Shinichiro Toki, Juan J. Canales, Patricia Harlan, Justin P. Blumenstiel, Emy J. Chen, I. Amy Bany, Naoki Mochizuki, Amy Ashbacher, Michiyuki Matsuda, David E. Housman, Ann M. Graybiel

Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22): 13278–13283. doi: 10.1073/pnas.95.22.13278

Correction in:: Proc Natl Acad Sci U S A. 1999 Jan 5; 96(1): 318.

PMCID:: PMC23782

Abstract Article PDF–572K

Select item 490026312.

Structural Basis for the Failure of the C1 Domain of Ras Guanine Nucleotide Releasing Protein 2 (RasGRP2) to Bind Phorbol Ester with High Affinity

Agnes Czikora, Daniel J. Lundberg, Adelle Abramovitz, Nancy E. Lewin, Noemi Kedei, Megan L. Peach, Xiaoling Zhou, Raymond C. Merritt, Jr., Elizabeth A. Craft, Derek C. Braun, Peter M. Blumberg

J Biol Chem. 2016 May 20; 291(21): 11133–11147. Published online 2016 Mar 28. doi: 10.1074/jbc.M116.725333