Article
Integrin α3 mutations with kidney, lung, and skin disease.
The New England journal of medicine - 19 Apr 2012
Has Cristina, Spartà Giuseppina, Kiritsi Dimitra, Weibel Lisa, Moeller Alexander, Vega-Warner Virginia, Waters Aoife, He Yinghong, Anikster Yair, Esser Philipp, Straub Beate K, Hausser Ingrid, Bockenhauer Detlef, Dekel Benjamin, Hildebrandt Friedhelm, Bruckner-Tuderman Leena, Laube Guido F
Abstract excerpt
Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic...
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