Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.
Waich S. et al, (2025), Jci insight, 10
Upadacitinib for Induction of Remission in Paediatric Crohn's Disease: An International Multicentre Retrospective Study.
Cohen S. et al, (2025), Aliment pharmacol ther
Effectiveness and Safety of Adalimumab in Patients With Very Early-Onset Inflammatory Bowel Disease: A Retrospective Study on Behalf of the Porto Inflammatory Bowel Disease Working Group of European Society for Pediatric Gastroenterology Hepatology and Nutrition.
Weintraub Y. et al, (2025), Inflamm bowel dis
Upadacitinib for Induction of Remission in Pediatric Ulcerative Colitis: An International Multi‑center Study.
Yerushalmy-Feler A. et al, (2024), J crohns colitis
A longitudinal single-cell atlas of anti-tumour necrosis factor treatment in inflammatory bowel disease.
Thomas T. et al, (2024), Nat immunol, 25, 2152 - 2165
The circulating methylome in childhood-onset inflammatory bowel disease.
Noble A. et al, (2024), J crohns colitis
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F. et al, (2024), J clin immunol, 45
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.
Tomomasa D. et al, (2024), J clin immunol, 45
Cellular and molecular basis of proximal small intestine disorders.
Bildstein T. et al, (2024), Nat rev gastroenterol hepatol
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.
Griffin H. et al, (2024), N engl j med, 391, 434 - 441
Short-chain fatty acids: linking diet, the microbiome and immunity.
Mann ER. et al, (2024), Nat rev immunol, 24, 577 - 595
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Eslamian G. et al, (2024), Clin exp immunol, 217, 1 - 11
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT. et al, (2024), Am j hum genet, 111, 1140 - 1164
Identification and validation of a blood- based diagnostic lipidomic signature of pediatric inflammatory bowel disease.
Salihovic S. et al, (2024), Nat commun, 15
An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn's disease with defective antimicrobial activity.
Aschenbrenner D. et al, (2024), Nat commun, 15
Intestinal Inflammation and Extraintestinal Disease: Understanding Dynamic Risk.
Ashton JJ. et al, (2024), Gastroenterology
Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research.
Yeh P-J. et al, (2024), J pediatr gastroenterol nutr
Elucidating the clinical spectrum and expanding genotype-phenotype associations in PI4KA-related disorder
Salter C. et al, (2024), European journal of human genetics, 32, 882 - 883
High diagnostic accuracy of 4-probe methylation biomarkers in paediatric Inflammatory Bowel Disease by epigenome-wide analysis
Noble A. et al, (2024), Journal of crohns & colitis, 18, I172 - I174
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen Y-H. et al, (2023), J clin immunol, 44