Usage Information

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
Barbara R. Pober, … , Mark Johnson, Zsolt Urban
Barbara R. Pober, … , Mark Johnson, Zsolt Urban
Published May 1, 2008
Citation Information: J Clin Invest. 2008;118(5):1606-1615. https://doi.org/10.1172/JCI35309.
View: Text | PDF
Science in Medicine

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

Abstract

Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in the elastin gene, leading to elastin haploinsufficiency, underlie the arteriopathy. In this review we describe potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations, and we propose several new directions for the development of nonsurgical preventative therapies based on insights from elastin biology.

Authors

Barbara R. Pober, Mark Johnson, Zsolt Urban

×

Usage data is cumulative from May 2024 through May 2025.

Usage JCI PMC
Text version 1,371 196
PDF 117 40
Figure 348 3
Table 47 0
Supplemental data 40 1
Citation downloads 76 0
Totals 1,999 240
Total Views 2,239
(Click and drag on plot area to zoom in. Click legend items above to toggle)

Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.

Various methods are used to distinguish robotic usage. For example, Google automatically scans articles to add to its search index and identifies itself as robotic; other services might not clearly identify themselves as robotic, or they are new or unknown as robotic. Because this activity can be misinterpreted as human readership, data may be re-processed periodically to reflect an improved understanding of robotic activity. Because of these factors, readers should consider usage information illustrative but subject to change.

Advertisement