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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