Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

The kindlin (or fermitin) family of proteins comprises three members (kindlin-1,-2 and-3) of
evolutionarily conserved focal adhesion (FA) proteins, whose best-known task is to increase …

Inflammatory Bowel Diseases (IBD) are chronic inflammatory disorders, where epithelial
defects drive, at least in part, some of the pathology. We reconstituted human intestinal …

The rate of pediatric inflammatory bowel disease (IBD) has been increasing over the last
decade and this increase has occurred most rapidly in the youngest children diagnosed< 6 …

Integrin‐mediated cell–ECM (extracellular matrix) adhesion is a fundamental process that
controls cell behaviour. For correct cell–ECM adhesion, both the ligand‐binding affinity and …

Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal
pigmentation, skin atrophy, and skin cancer, is caused by mutations in the FERMT1 gene …

Inflammatory bowel disease (IBD) is a group of chronic multifactorial disorders. According to
a recent study, the number of IBD association loci is increased to 201, of which 37 and 27 …

Kindlins are a group of proteins that have recently attracted attention for their ability to bind
and activate integrins. Moreover, they have also been linked to inherited and acquired …

Rare, monogenetic diseases present unique models to dissect gene functions and
biological pathways, concomitantly enhancing our understanding of the etiology of complex …