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Citations to this article

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.
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Commentary Article has an altmetric score of 2

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

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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).

Authors

Robert O. Heuckeroth

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Total citations by year

Year: 2025 2024 2023 2022 2021 2018 2016 Total
Citations: 1 2 3 3 1 2 1 13
Citation information
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Citations to this article (13)

Title and authors Publication Year
Rdh10-mediated Retinoic Acid Signaling Regulates the Neural Crest Cell Microenvironment During ENS Formation
Butler Tjaden NE, Shannon SR, Seidel CW, Childers M, Aoto K, Sandell LL, Trainor PA
bioRxiv 2025
Role of Inflammation and the NF-κB Signaling Pathway in Hirschsprung’s Disease
Elkrewi EZ, Al Abdulqader AA, Khasanov R, Maas-Omlor S, Boettcher M, Wessel LM, Schäfer KH, Tapia-Laliena MÁ
Biomolecules 2024
Use of Cosmetics in Pregnancy and Neurotoxicity: Can It Increase the Risk of Congenital Enteric Neuropathies?
Jones K, Wessel LM, Schäfer KH, Tapia-Laliena MÁ
Biomolecules 2024
A Case Report of Hirschsprung’s Disease in a Neonate: Early Detection and Review of Management
Rajabally F, Alkhaldi R, Huang H, Said M, Elnakoury F, Avanthika C, Abdool F
Cureus 2023
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.
Rozen EJ, Ozeroff CD, Allen MA
Human genomics 2023
Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A
Nature Reviews Disease Primers 2023
Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells
N Mollo, M Aurilia, R Scognamiglio, L Zerillo, R Cicatiello, F Bonfiglio, P Pagano, S Paladino, A Conti, L Nitsch, A Izzo
Frontiers in Genetics 2022
Enteric neurosphere cells injected into rectal submucosa might migrate caudorostrally to reconstitute enteric ganglia along the entire length of postnatal colon
Chen JC
Stem Cell Research & Therapy 2022
Migration deficits of the neural crest caused by CXADR triplication in a human Down syndrome stem cell model
Liu H, Huang S, Wang W, Wang H, Huang W, Zhai Z, Wang D, Fan Y, Sun J, Li D, Chiu W, Lai X, Zeng J, Ke Q, Wang T, Xiang AP, Yuan Y, Zhang X, Li W
Cell Death and Disease 2022
Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish
YJ Lu, WW Yu, MM Cui, XX Yu, HL Song, MR Bai, WJ Wu, BL Gu, J Wang, W Cai, X Chu
Frontiers in Cell and Developmental Biology 2021
Collagen VI in healthy and diseased nervous system
I Gregorio, P Braghetta, P Bonaldo, M Cescon
Disease models & mechanisms 2018
Modeling Down Syndrome with Patient iPSCs Reveals Cellular and Migration Deficits of GABAergic Neurons
HQ Huo, ZY Qu, F Yuan, L Ma, L Yao, M Xu, Y Hu, J Ji, A Bhattacharyya, SC Zhang, Y Liu
Stem Cell Reports 2018
The bowel and beyond: the enteric nervous system in neurological disorders
M Rao, MD Gershon
Nature Reviews Gastroenterology & Hepatology 2016

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