PMC Articles for MedGen (Select 356158) - PMC

Select item 81170051.

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

Marta López-Nevado, Jorge Docampo-Cordeiro, José T. Ramos, Rebeca Rodríguez-Pena, Celia Gil-López, Silvia Sánchez-Ramón, Juana Gil-Herrera, María J. Díaz-Madroñero, María A. Delgado-Martín, Pablo Morales-Pérez, Estela Paz-Artal, Aude Magerus, Frederic Rieux-Laucat, Luis M. Allende

Front Immunol. 2021; 12: 656356. Published online 2021 Apr 29. doi: 10.3389/fimmu.2021.656356

PMCID:: PMC8117005

Abstract Article PDF–2.3M

Select item 48006812.

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

Schafiq Nabhani, Sebastian Ginzel, Hagit Miskin, Shoshana Revel-Vilk, Dan Harlev, Bernhard Fleckenstein, Andrea Hönscheid, Prasad T. Oommen, Michaela Kuhlen, Ralf Thiele, Hans-Jürgen Laws, Arndt Borkhardt, Polina Stepensky, Ute Fischer

Haematologica. 2015 Sep; 100(9): 1189–1198. doi: 10.3324/haematol.2014.114967

PMCID:: PMC4800681

Abstract Article PDF–1.2M

Select item 38242803.

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

Aude Magerus-Chatinet, Marie-Claude Stolzenberg, Nina Lanzarotti, Bénédicte Neven, Cécile Daussy, Capucine Picard, Nathalie Neveux, Mukesh Desai, Meghana Rao, Kanjaksha Ghosh, Manisha Madkaikar, Alain Fischer, Frédéric Rieux-Laucat

J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Nov 12.

Published in final edited form as: J Allergy Clin Immunol. 2013 Feb; 131(2): 10.1016/j.jaci.2012.06.011. Published online 2012 Jul 31. doi: 10.1016/j.jaci.2012.06.011

PMCID:: PMC3824280

Abstract Article PDF–974K

Select item 28929514.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

Kennichi C. Dowdell, Julie E. Niemela, Susan Price, Joie Davis, Ronald L. Hornung, João Bosco Oliveira, Jennifer M. Puck, Elaine S. Jaffe, Stefania Pittaluga, Jeffrey I. Cohen, Thomas A. Fleisher, V. Koneti Rao

Blood. 2010 Jun 24; 115(25): 5164–5169. Prepublished online 2010 Apr 1. doi: 10.1182/blood-2010-01-263145

PMCID:: PMC2892951

Abstract Article

Select item 22115075.

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome

Elisa Cerutti, Maria F Campagnoli, Massimo Ferretti, Emanuela Garelli, Nicoletta Crescenzio, Angelo Rosolen, Annalisa Chiocchetti, Michael J Lenardo, Ugo Ramenghi, Umberto Dianzani

BMC Immunol. 2007; 8: 28. Published online 2007 Nov 13. doi: 10.1186/1471-2172-8-28

PMCID:: PMC2211507

Abstract Article PDF–464K

Select item 19315856.

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo, Stephen E Straus

BMC Med Genet. 2007; 8: 41. Published online 2007 Jul 2. doi: 10.1186/1471-2350-8-41

PMCID:: PMC1931585

Abstract Article PDF–1.0M

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