کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5649540 | 1407127 | 2017 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016
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کلمات کلیدی
AMPPPIPTCGACIPXEpseudoxanthoma elasticumTNAPTissue nonspecific alkaline phosphataseACDCAdenosine Triphosphate - آدنوزین تری فسفاتATP - آدنوزین تری فسفات یا ATPadenosine monophosphate - آدنوزین مونوفسفرهinorganic pyrophosphate - پیرو فسفات معدنیpremature termination codon - کدون از بین بردن زودرسgeneralized arterial calcification of infancy - کلسیفیکاسیون شریان کلیه در دوران کودکی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
امراض پوستی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 137, Issue 4, April 2017, Pages 790-795
Journal: Journal of Investigative Dermatology - Volume 137, Issue 4, April 2017, Pages 790-795
نویسندگان
Jouni Uitto, Qiaoli Li, Koen van de Wetering, András Váradi, Sharon F. Terry,