Detalhe da pesquisa
1.
Patient-derived organoid biobank identifies epigenetic dysregulation of intestinal epithelial MHC-I as a novel mechanism in severe Crohn's Disease.
Gut
; 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38857990
2.
NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures.
Gut
; 72(4): 654-662, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191961
3.
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.
Hum Genet
; 142(5): 599-611, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761107
4.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Hum Genet
; 142(5): 697-704, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773065
5.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int
; 43(5): 1089-1095, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938759
6.
Modulation of intestinal IL-37 expression and its impact on the epithelial innate immune response and barrier integrity.
Front Immunol
; 14: 1261666, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37799712
7.
Paneth cell dysfunction and the intestinal microbiome in XIAP deficiency.
Sci Immunol
; 6(65): eabm0293, 2021 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739344
8.
The cardiovascular phenotype of adult patients with phenylketonuria.
Orphanet J Rare Dis
; 14(1): 213, 2019 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31492166