Associated Papers
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 2025
40021654 (PubMed )
Supplement: 41525_2025_480_MOESM1_ESM.pdf
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
Aschenbrenner D et al.
Journal of Clinical Immunology, 2023
Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).
Al-Abbasi FA et al.
Frontiers in Genetics, 2018
Novel de Novo Mutations of the Interleukin-10 Receptor Gene Lead to Infantile Onset Inflammatory Bowel Disease: A Correction.
Mohammed K et al.
Journal of Crohn's & Colitis, 2017
Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease.
Lee CH et al.
Journal of Crohn's & Colitis, 2014
Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.
Shouval DS et al.
Advances in Immunology, 2014
IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.
Engelhardt KR et al.
Current Topics in Microbiology and Immunology, 2014
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
Engelhardt KR et al.
The Journal of Allergy and Clinical Immunology, 2013
Interleukin-10 and interleukin-10-receptor defects in inflammatory bowel disease.
Shah N et al.
Current Allergy and Asthma Reports, 2012
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Kotlarz D et al.
Gastroenterology, 2012
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