Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

@article{Yalcin2015CrucialRO,
  title={Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.},
  author={Ebru Gunes Yalcin and Yinghong He and D. Atesalp Orhan and Chiara Pazzagli and Nagehan Emiralioglu and Cristina Has},
  journal={Human molecular genetics},
  year={2015},
  volume={24 13},
  pages={
          3679-88
        }
}
Interstitial lung disease, nephrotic syndrome and junctional epidermolysis bullosa is an autosomal recessive multiorgan disorder caused by mutations in the gene for the integrin α3 subunit (ITGA3). The full spectrum of manifestations and genotype-phenotype correlations is still poorly characterized. Here, we uncovered the disease-causing role and the molecular mechanisms underlying a homozygous ITGA3 mutation leading to the single amino acid substitution, p.R463W. The patient suffered from… CONTINUE READING
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