Year: 2003
Type: dissertation
Abstract: This thesis describes research to elucidate the molecular pathology of \npseudoxanthoma elasticum (PXE), from phenotype to genotype. PXE is an \nautosomally inherited disorder of connective tissue, affecting the skin, Bruch's \nmembrane of the eye, and cardiovascular system. The most apparent clinical \nfeatures of PXE is the skin manifestation. Ocular features include angioid streaks, \npeau d'orange, and comet-like streaks in the retina. Disability in PXE is usually the \nresult of vascular complications, among which loss of visual acuity due to \nhemorrhage and scarring in the centre of the retina, the macula lutea. \nPXE is either sporadic or usually segregates as an recessive disorder. Also \ndominant inheritance has been described. PXE is caused by mutations in the \nABCC6 (ATP-binding cassette, subfamily C, member 6) gene encoding a \ntransmembrane protein. \nThe aim of this thesis was outlined in a brief introduction on PXE in chapter \n1.1. The history of PXE was described in chapter 1.2 in which we summarized \nclinical, histopathological, and molecular aspects of PXE by reviewing the literature \nover the period from 1966 to 2002.
Author: Xiaofeng Hu
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funder: Deutsches Krebsforschungszentrum
OpenAlex ID: W1511774779