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Int. J. Mol. Sci. 2017, 18(7), 1488; doi:10.3390/ijms18071488

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy

1
Department of Biology, Trinity Washington University, College Of Arts and Sciences, 125 Michigan Avenue NE, Washington, DC 20017, USA
2
PXE International, 4301 Connecticut Avenue NW, Suite 404, Washington, DC 20008, USA
3
Laboratory of Translational Genomics, The Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20885, USA
*
Authors to whom correspondence should be addressed.
Received: 18 May 2017 / Revised: 12 June 2017 / Accepted: 26 June 2017 / Published: 11 July 2017
(This article belongs to the Special Issue Physiological and Pathological Roles of ABC Transporters)
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Abstract

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included. Because of these initiatives, individuals affected by these conditions benefit by being scientifically informed about their condition, having an effective support mechanism, and also by contributing to scientific research efforts and banking of biological samples. This rapid progress would not have been possible without the aid of disease advocacy organizations such as PXE International. View Full-Text
Keywords: pseudoxanthoma elasticum; mineralization; rare disease; next generation sequencing; patient advocacy pseudoxanthoma elasticum; mineralization; rare disease; next generation sequencing; patient advocacy
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Moitra, K.; Garcia, S.; Jaldin, M.; Etoundi, C.; Cooper, D.; Roland, A.; Dixon, P.; Reyes, S.; Turan, S.; Terry, S.; Dean, M. ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy. Int. J. Mol. Sci. 2017, 18, 1488.

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