The Human Face of ABCC6.

FEBS Letters
Sharon F Terry

Abstract

Researchers working on basic and translational clinical science related to ABC transporters are enthusiastic and dedicated investigators. As the field has grown, so has its contribution to human disease. Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non-scientists, began supporting research and convenings on these transporters, specifically ABCC6, the gene associated with PXE, 20 years ago. As a patient advocacy organization, we have spent more than 25 years creating a large research consortium, initiating, funding and conducting research. Years of basic modelling and vigorous hypothesis testing have resulted in some important advances leading to clinical trials. The synergy of basic scientists, lay advocates, clinicians and translational scientists has dramatically accelerated research on PXE and progress towards better and more effective treatments for PXE patients.

References

May 14, 1998·The Journal of Investigative Dermatology·J UittoS Terry
Jan 10, 2002·American Journal of Medical Genetics·S F Terry, C D Boyd
Mar 15, 2003·Journal of the American Academy of Dermatology·Lionel BercovitchMark Lebwohl
Jun 18, 2003·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Konstanze BeckCharles D Boyd
Oct 1, 2003·Health Affairs·Sharon F Terry
Nov 16, 2004·The British Journal of Dermatology·L BercovitchM A Weinstock
Jan 19, 2007·Nature Reviews. Genetics·Sharon F TerryLionel G Bercovitch
Feb 8, 2013·Science Translational Medicine·Kristin BaxterSharon F Terry
May 16, 2013·The Journal of Investigative Dermatology·Jouni UittoSharon F Terry
Nov 28, 2013·Proceedings of the National Academy of Sciences of the United States of America·Robert S JansenKoen van de Wetering
Apr 6, 2016·Applied & Translational Genomics·Sharon F Terry
Jan 24, 2017·The Journal of Investigative Dermatology·Qiaoli LiJouni Uitto
Jul 14, 2017·EMBO Molecular Medicine·Dóra DedinszkiAndrás Váradi
Mar 4, 2019·Journal of the American Academy of Dermatology·Sharon RoseMark Lebwohl
Nov 23, 2019·Atherosclerosis·Jonas W BartstraWilko Spiering
Feb 12, 2020·Annals of Translational Medicine·Ana María Sánchez-TévarPedro Valdivielso

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