Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue

J Gogusev, I Murakami, M Doussau… - Journal of the …, 2003 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous
disorder characterized by focal cyst formation from any part of the nephron. The molecular
bases include germinal mutation of either PKD1 or PKD2 genes, enhanced expression of
several protooncogenes, alteration of the TGF-α/EGF/EGF receptor (EGFR) axis, and
disturbed regulation of proliferative/apoptosis pathways. To identify new locations of ADPKD
related oncogenes and/or tumor suppressor genes (TSG), comparative genomic …