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Abnormal phenotype of in vitro dermal fibroblasts from patients with pseudoxanthoma elasticum (PXE) [PDF]
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2000 Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disease, whose gene and pathogenesis are still unknown. Dermal fibroblasts from patients affected by PXE have been compared in vitro with fibroblasts taken from sex and age-matched normal ...
Federica Boraldi +2 more
exaly +3 more sources
Peripapillary comet lesions and comet rain in PXE-related retinopathy
Graefe's Archive for Clinical and Experimental Ophthalmology, 2018 Purpose: To study peripapillary comet lesions (PCL) in Italian patients affected with pseudoxanthoma elasticum (PXE). Methods: Retrospective review of fundoscopic and swept-source (SS) optical coherence tomography (OCT) images of patients with PXE ...
Stanislao Rizzo +2 more
exaly +3 more sources
Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis [PDF]
Laboratory Investigation, 2008 Mutations in the ABCC6 gene, encoding the multidrug resistance-associated protein 6 (MRP6), cause pseudoxanthoma elasticum (PXE). This heritable disorder leads to pathological alterations in connective tissues.
Thomas Langmann +2 more
exaly +2 more sources
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Researching the biology of PXE: Partnering in the process
American Journal of Medical Genetics, Part A, 2001Sharon Terry, Charles D Boyd
exaly
The Transformative Power of Broadly Engaged Team Science: A Mother’s Quest to Understand PXE
2022Sharon Terry
exaly