PMC Links for Nucleotide (Select 345498498) - PMC

Select item 59250051.

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency

Laura Gámez-Díaz, Elena C. Sigmund, Veronika Reiser, Werner Vach, Sophie Jung, Bodo Grimbacher

Front Immunol. 2018; 9: 720. Published online 2018 Apr 23. doi: 10.3389/fimmu.2018.00720

PMCID:: PMC5925005

Select item 52815542.

Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency

Shahrzad Bakhtiar, Laura Gámez-Díaz, Andrea Jarisch, Jan Soerensen, Bodo Grimbacher, Bernd Belohradsky, Klaus-Michael Keller, Christoph Rietschel, Thomas Klingebiel, Sibylle Koletzko, Michael H. Albert, Peter Bader

Front Immunol. 2017; 8: 52. Published online 2017 Jan 31. doi: 10.3389/fimmu.2017.00052

PMCID:: PMC5281554

Abstract Article PDF–1.0M

Select item 44297223.

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

Markus G. Seidel, Tatjana Hirschmugl, Laura Gamez-Diaz, Wolfgang Schwinger, Nina Serwas, Andrea Deutschmann, Gregor Gorkiewicz, Werner Zenz, Christian Windpassinger, Bodo Grimbacher, Christian Urban, Kaan Boztug

J Allergy Clin Immunol. 2015 May; 135(5): 1384–1390.e8. doi: 10.1016/j.jaci.2014.10.048

PMCID:: PMC4429722

Article

Select item 38135754.

Inferring Polymorphism-Induced Regulatory Gene Networks Active in Human Lymphocyte Cell Lines by Weighted Linear Mixed Model Analysis of Multiple RNA-Seq Datasets

Wensheng Zhang, Andrea Edwards, Erik K. Flemington, Kun Zhang

PLoS One. 2013; 8(10): e78868. Published online 2013 Oct 30. doi: 10.1371/journal.pone.0078868

PMCID:: PMC3813575

Abstract Article PDF–826K

Select item 37619355.

The BEACH is hot: A LYST of emerging roles for BEACH-domain containing proteins in human disease

Andrew R. Cullinane, Alejandro A. Schäffer, Marjan Huizing

Traffic. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Traffic. 2013 Jul; 14(7): 10.1111/tra.12069. Published online 2013 Apr 24. doi: 10.1111/tra.12069

PMCID:: PMC3761935

Abstract Article PDF–1.7M

Select item 33702806.

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

Gabriela Lopez-Herrera, Giacomo Tampella, Qiang Pan-Hammarström, Peer Herholz, Claudia M. Trujillo-Vargas, Kanchan Phadwal, Anna Katharina Simon, Michel Moutschen, Amos Etzioni, Adi Mory, Izhak Srugo, Doron Melamed, Kjell Hultenby, Chonghai Liu, Manuela Baronio, Massimiliano Vitali, Pierre Philippet, Vinciane Dideberg, Asghar Aghamohammadi, Nima Rezaei, Victoria Enright, Likun Du, Ulrich Salzer, Hermann Eibel, Dietmar Pfeifer, Hendrik Veelken, Hans Stauss, Vassilios Lougaris, Alessandro Plebani, E. Michael Gertz, Alejandro A. Schäffer, Lennart Hammarström, Bodo Grimbacher

Am J Hum Genet. 2012 Jun 8; 90(6): 986–1001. doi: 10.1016/j.ajhg.2012.04.015

PMCID:: PMC3370280

Abstract Article PDF–1.2M

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