Associated Papers
Synthetic receptor platform to identify loss-of-function single nucleotide variants and designed mutants in the death receptor Fas/CD95.
Minafra AR et al.
The Journal of Biological Chemistry, 2023
Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.
Hafezi N et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
Ben-Mustapha I et al.
Journal of Leukocyte Biology, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
Kuehn HS et al.
Journal of Immunology (baltimore, Md. : 1950), 2011
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