PMC Links for Protein (Select 1435083045) - PMC

Select item 60505111.

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

Walter HA Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon, Rick Gadzinski, Mike Storck, Kai Wang, Gi-Yung Ryu, Shawn M Jobe, Brian C Schutte, Jack Moseley, Noeleen B Loughran, John Parkinson, Andrew S Weyrich, Jorge Di Paola

Nat Genet. Author manuscript; available in PMC 2018 Jul 18.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 738–740. Published online 2011 Jul 17. doi: 10.1038/ng.884

PMCID:: PMC6050511

Abstract Article PDF–400K

Select item 58777832.

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood. 2018 Mar 1; 131(9): 1000–1011. Prepublished online 2017 Nov 29. doi: 10.1182/blood-2017-08-800359

PMCID:: PMC5877783

Abstract Article

Select item 56695593.

NBEAL2 is required for neutrophil and NK cell function and pathogen defense

John M. Sowerby, David C. Thomas, Simon Clare, Marion Espéli, Jose A. Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R. Barton, Shaun M. Flint, Jatinder K. Juss, Alison M. Condliffe, Paul A. Lyons, Ian R. Humphreys, Edwin R. Chilvers, Willem H. Ouwehand, Gordon Dougan, Kenneth G.C. Smith

J Clin Invest. 2017 Sep 1; 127(9): 3521–3526. Published online 2017 Aug 7. doi: 10.1172/JCI91684

PMCID:: PMC5669559

Abstract Article PDF–879K

Select item 53951104.

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

Anouck Wijgaerts, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet, Kathleen Freson

Haematologica. 2017 Apr; 102(4): 695–706. Prepublished online 2017 Jan 12. doi: 10.3324/haematol.2016.152777

PMCID:: PMC5395110

Abstract Article PDF–1.6M

Select item 34289345.

Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross NW Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A Smethurst, Jonathan Stephens, Katrin Voss, Alan Nurden, Augusto Rendon, Paquita Nurden, Willem H Ouwehand

Nat Genet. Author manuscript; available in PMC 2012 Aug 28.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 735–737. Published online 2011 Jul 17. doi: 10.1038/ng.885

PMCID:: PMC3428934

Abstract Article PDF–1.0M

Select item 31540196.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

Meral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat, Cornelius F Boerkoel, Nehama Kfir, Yan Huang, Dawn Maynard, Heidi Dorward, Katherine Berger, Robert Kleta, Yair Anikster, Mutlu Arat, Andrew S Freiberg, Beate E Kehrel, Kerstin Jurk, Pedro Cruz, Jim C Mullikin, James G White, Marjan Huizing, William A Gahl

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 732–734. Published online 2011 Jul 17. doi: 10.1038/ng.883

PMCID:: PMC3154019

Abstract Article PDF–242K

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