Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
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Author / Creator
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 and Laube, Guido F
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
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Scope and Contents
Contents
Three patients with homozygous mutations in the integrin α3 gene, a transmembrane integrin receptor subunit, were found to have disrupted basement-membrane structures causing congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa.
Epithelial–mesenchymal interactions are important in the development and tissue homeost...
Alternative Titles
Full title
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3341404
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3341404
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1110813
