Associated Papers
Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.
Lee J et al.
Scientific Reports, 2024
TNFR2 induced priming of the inflammasome leads to a RIPK1-dependent cell death in the absence of XIAP.
Knop J et al.
Cell Death & Disease, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Lekbua A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Genome sequencing in the clinic: the past, present, and future of genomic medicine.
Prokop JW et al.
Physiological Genomics, 2018
Investigation of inflammatory bowel disease risk factors in 4 families in central China.
Xu S et al.
Experimental and Therapeutic Medicine, 2018
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.
Chirieleison SM et al.
The Journal of Biological Chemistry, 2017
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Kelsen JR et al.
Bmc Gastroenterology, 2015
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
Damgaard RB et al.
Embo Molecular Medicine, 2013
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
Marsh RA et al.
Blood, 2013
Exome sequencing as a tool for Mendelian disease gene discovery.
Bamshad MJ et al.
Nature Reviews. Genetics, 2011
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Worthey EA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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