TY - JOUR
AU - Legate, Kyle R.
AB - 


The integrin adhesome consists of molecules that are associated with the structure and signalling activity of integrin-mediated adhesions. The analysis of adhesome components shows that their mutation or dysregulation is often associated with human disease.


Searching databases for monogenic diseases that display Mendelian inheritance revealed over 50 genes, which primarily encode adhesome signalling proteins, that are involved in human diseases (predominately cancer).


An additional set of 138 adhesome genes was shown to be genetically associated with disease. These diseases are caused by dysregulation of multiple genes, some of which, such as adhesion receptors, are related to the integrin adhesome.


The current approaches that are used for associating particular genes with specific diseases include in silico analysis, cell culture studies and animal experiments.


The development of mammalian disease models by genetic manipulation has demonstrated the relevance of specific groups of genes in human diseases, including haematological and blistering disorders (among others).


The combined data derived from different mammalian disease models reveal that the integrin adhesome has a major role in regulating tissue homeostasis and cellular interactions, and that aberrant expression and gene mutations in its diverse constituents can lead to major pathological states.



TI - The integrin adhesome: from genes and proteins to human disease
JF - Nature Reviews Molecular Cell Biology
DO - 10.1038/nrm3769
DA - 2014-03-21
UR - https://www.deepdyve.com/lp/springer-journals/the-integrin-adhesome-from-genes-and-proteins-to-human-disease-Y7dLkb80Ts
SP - 273
EP - 288
VL - 15
IS - 4
DP - DeepDyve
ER -