ArticleThe Journal of clinical investigation2015
Hirschsprung's disease, Down syndrome, and missing heritability: too much collagen slows migration.
Article in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Analysis of terminal rectal fibrosis and expression of type I and type III collagen proteins in patients with mid-high anorectal malformations.Pediatric surgery international · 2026Article
- Retinol dehydrogenase 10-mediated retinoic acid signaling regulates the neural crest cell microenvironment during enteric nervous system formation.Human molecular genetics · 2026Article
- Microplastics and neurotoxicity: could prenatal exposure to microplastics boost congenital enteric neuropathies?Frontiers in toxicology · 2026Review
- Article
- The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes.Annual review of genomics and human genetics · 2025Review
- Article
- Use of Cosmetics in Pregnancy and Neurotoxicity: Can It Increase the Risk of Congenital Enteric Neuropathies?Biomolecules · 2024Review
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.Human genomics · 2023Review
- A Case Report of Hirschsprung's Disease in a Neonate: Early Detection and Review of Management.Cureus · 2023Article
- Enteric neurosphere cells injected into rectal submucosa might migrate caudorostrally to reconstitute enteric ganglia along the entire length of postnatal colon.Stem cell research & therapy · 2022Article
- Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells.Frontiers in genetics · 2022Article
- Association Analysis of Variants ofFrontiers in cell and developmental biology · 2021Article
- Collagen VI in healthy and diseased nervous system.Disease models & mechanisms · 2018Review
- Modeling Down Syndrome with Patient iPSCs Reveals Cellular and Migration Deficits of GABAergic Neurons.Stem cell reports · 2018Article
- The bowel and beyond: the enteric nervous system in neurological disorders.Nature reviews. Gastroenterology & hepatology · 2016Review
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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).
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