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Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.

Human genetics - 1 May 2023

Azabdaftari Aline, Jones Kelsey D J, Kammermeier Jochen, Uhlig Holm H

Abstract excerpt

Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of...

Topics

Humans
Precision Medicine
Genetic Predisposition to Disease
Inflammatory Bowel Diseases
Intestines
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35761107
DOI: 10.1007/s00439-022-02464-7

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