Type VII collagen in Alport syndrome | Zendy

K. Giannakakis | Zendy; Laura Massella | Zendy; D. Grassetti | Zendy; Francesco Dotta | Zendy; Marie Perez | Zendy; Andrea Onetti Muda | Zendy

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Type VII collagen in Alport syndrome

Author(s) -

K. Giannakakis,

Laura Massella,

D. Grassetti,

Francesco Dotta,

Marie Perez,

Andrea Onetti Muda

Publication year - 2007

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfm481

Subject(s) - alport syndrome , basement membrane , collagen, type i, alpha 1 , extracellular matrix , type iv collagen , immunofluorescence , type i collagen , glomerular basement membrane , medicine , messenger rna , pathology , microbiology and biotechnology , glomerulonephritis , endocrinology , biology , kidney , immunology , biochemistry , gene , laminin , antibody

Absence or segmental distribution of the alpha5(IV) collagen chain along the epidermal basement membrane (EBM) is diagnostic of X-linked Alport syndrome (X-AS), but the typical morphologic alterations usually observed along the glomerular basement membrane (GBM) are lacking. However, several differences in protein composition exist between GBM and EBM, and such differences could account for a different phenotype with the same genetic defect. Type VII collagen is one of the major collagenous components of the EBM; the purpose of this study was to investigate the modifications of protein synthesis and expression of type VII collagen in the skin of patients with X-AS.

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