Associated Papers
Pathogenic OTUD3 Mutations Predispose to Ulcerative Colitis Due to Barrier Dysfunction.
Giri R et al.
Cellular and Molecular Gastroenterology and Hepatology, 2026
E3 Ubiquitin Ligases: Structures, Biological Functions, Diseases, and Therapy.
Wang H et al.
Medcomm, 2025
Identification of a disease-associated germline mutation (A64T) of the ring finger protein 186 gene (RNF186) in Korean patients with ulcerative colitis.
Park SH et al.
Genes & Diseases, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.
Chan JW et al.
Cell Death & Disease, 2023
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
Sazonovs A et al.
Nature Genetics, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E et al.
European Journal of Human Genetics : Ejhg, 2022
Multiple types of genomic variation contribute to adaptive traits in the mustelid subfamily Guloninae.
Derežanin L et al.
Molecular Ecology, 2022
Ubiquitin-specific proteases in inflammatory bowel disease-related signalling pathway regulation.
Chen R et al.
Cell Death & Disease, 2022
Functional screen of inflammatory bowel disease genes reveals key epithelial functions.
Ntunzwenimana JC et al.
Genome Medicine, 2021
RNF186 regulates EFNB1 (ephrin B1)-EPHB2-induced autophagy in the colonic epithelial cells for the maintenance of intestinal homeostasis.
Zhang H et al.
Autophagy, 2021
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Bis JC et al.
Molecular Psychiatry, 2020
Pathway paradigms revealed from the genetics of inflammatory bowel disease.
Graham DB et al.
Nature, 2020
Rare and common variant discovery in complex disease: the IBD case study.
Venkataraman GR et al.
Human Molecular Genetics, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Kurki MI et al.
Nature Communications, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
DeBoever C et al.
Nature Communications, 2018
The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema WT et al.
The Journal of Pathology, 2017
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA et al.
Nature Communications, 2016
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA et al.
Nature Communications, 2016
Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G et al.
Human Molecular Genetics, 2014