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2004: PXE Research Conference



For the second time in seven years, PXE International convened a PXE Research Meeting on October 14-15, 2004 at the Pooks Hill Marriott in Bethesda, MD. There have been many new discoveries in pseudoxanthoma elasticum research since the first meeting in 1997. The gene associated with PXE, ABCC6, was discovered, and important work on the characteristics of the protein and the cell was conducted. Also, a large epidemiological study was conducted, as were a number of smaller clinical studies. This meeting described progress in genetics, cellular and molecular biology, catalyzed the current research through knowledge and tools of related research, provided the foundation for a comprehensive research plan and determined best practices for clinical care of individuals affected by PXE.  

Below find presentation summaries from the 2004 PXE Research Conference. Click to expand or hide.

*Speakers who received support, either funding or biological samples, from PXE International are indicated with an asterisk after their names.


Translational Research for Rare Diseases: Using the Tools of the Trade

Decoding the Human Genome by Multi-Species Sequence Comparison

ATP-Binding Cassette Transporters and Human Disease

Pairing ABC Transporters with Substrates: Correlation of ABC-Transporter Expression with Chemosensitivity in the NC160 Cell Panel

Substrate Selectivity of New MRP Family Members

Metabolic Disorders of the Liver and Kidney

ABCC6 Gene Mutations in South African Patients with PXE

Autosomal Dominant Inheritance in PXE: Debunking the Myth

Standardization of a Mutation Detection Strategy for ABCC6

Analysis of ABCC6/MRP6 Gene Expression in Human Cell Lines

Localization and Biophysiology: Analysis of Missense PXE – Mutants of ABCC6

How Fibroblasts Could Be Involved in the Pathogenesis of PXE

The Pathobiology of Acquired Pseudoxanthoma Elasticum

Stargardt Disease, Retinitis Pigmentosa, and Age-Related Macular Degeneration

CFTR: Phenotypes, Genotypes, and Functions

Liver-Related ABC Transporter Diseases Related to Inheritable Defect in Bile Secretion and Cholestasis

ABCA1: Identification of the Genetic Defect in Tangier Disease and Its Role in Reverse-Cholesterol Transport and Atherosclerosis

A Mouse Model for Pseudoxanthoma Elasticum: Targeted Ablation for ABCC6 Results in Aberrant Calcification of Connective Tissue

Visceral Calcifications As Part of the Phenotype of PXE: Ultrasonographical Findings in Belgian Patients and Heterozygous Carriers

Mineral Deposition in Pseudoxanthoma Elasticum: Regulation by Cell and Matrix Factors

Genotype-Phenotype Correlations

Pregnancy and Obstetrical Outcomes in PXE

Treatments for Eye Manifestations of PXE

Preliminary Epidemiological Study Results

Last modified: 06/21/2013