Usage Information

Hirschsprung’s disease, Down syndrome, and missing heritability: too much collagen slows migration
Robert O. Heuckeroth
Robert O. Heuckeroth
Published November 16, 2015
Citation Information: J Clin Invest. 2015;125(12):4323-4326. https://doi.org/10.1172/JCI85003.
View: Text | PDF
Commentary Article has an altmetric score of 2

Hirschsprung’s disease, Down syndrome, and missing heritability: too much collagen slows migration

Abstract

Hirschsprung’s disease (HSCR) causes functional intestinal obstruction due to the absence of the enteric nervous system (ENS) in the distal bowel and is usually diagnosed shortly after birth or during childhood. While several genetic and nongenetic factors have been linked to HSCR, the underlying mechanisms that prevent ENS precursors from colonizing distal bowel during fetal development are not completely understood in many affected children. In this issue of the JCI, Soret and colleagues identify a new mechanism that causes HSCR-like disease in mice and involves deposition of excess collagen VI in the intestine by migrating ENS precursors as they colonize fetal bowel. Remarkably, their findings may explain some of the so-called missing heritability of HSCR and suggest a mechanism for increased HSCR incidence in children with Down syndrome (trisomy 21).

Authors

Robert O. Heuckeroth

×

Usage data is cumulative from May 2024 through May 2025.

Usage JCI PMC
Text version 547 401
PDF 102 50
Figure 122 4
Citation downloads 67 0
Totals 838 455
Total Views 1,293
(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