Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.G141R
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IL10RA

NM_001558.4:p.G141R

Associated Papers

Exploring genotype-phenotype correlations in three pediatric patients with IL10RA variants and very early-onset inflammatory bowel disease.

Qiu R et al.

Bmc Gastroenterology, 2026

Matched Unrelated Donor Hematopoietic Stem Cell Transplant as Successful Curative Therapy for IL10RB Mutation-Associated Very Early Onset IBD.

Grotra R et al.

Pediatric Transplantation, 2024

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

Su W et al.

World Journal of Gastroenterology, 2021

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.

Zheng C et al.

Inflammatory Bowel Diseases, 2019

Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease.

Oh SH et al.

Inflammatory Bowel Diseases, 2019

Study of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.

Wang XQ et al.

Bmc Pediatrics, 2018

Investigation of inflammatory bowel disease risk factors in 4 families in central China.

Xu S et al.

Experimental and Therapeutic Medicine, 2018

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).

Al-Abbasi FA et al.

Frontiers in Genetics, 2018

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Huang Z et al.

Inflammatory Bowel Diseases, 2017

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.

Shim JO et al.

Journal of Human Genetics, 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

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

Mao H et al.

Genes and Immunity, 2012

Inflammation profile of four early onset Crohn patients.

Marcuzzi A et al.

Gene, 2012

Inflamed gut mucosa: downstream of interleukin-10.

Paul G et al.

European Journal of Clinical Investigation, 2012

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

IL-10RA truncation mutations and Semite populations.

Gasche C et al.

Inflammatory Bowel Diseases, 2011

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Glocker EO et al.

The New England Journal of Medicine, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."