Hirschsprung disease is linked to defects in neural crest stem cell function

T Iwashita, GM Kruger, R Pardal, MJ Kiel, SJ Morrison - Science, 2003 - science.org
Genes associated with Hirschsprung disease, a failure to form enteric ganglia in the hindgut,
were highly up-regulated in gut neural crest stem cells relative to whole-fetus RNA. One of …

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

TA Heanue, V Pachnis - Nature Reviews Neuroscience, 2007 - nature.com
The enteric nervous system (ENS) has been explored by developmental neurobiologists
and medical researchers for decades. Whereas developmental biologists have been …

Ret deficiency decreases neural crest progenitor proliferation and restricts fate potential during enteric nervous system development

E Vincent, S Chatterjee, GH Cannon… - Proceedings of the …, 2023 - National Acad Sciences
The receptor tyrosine kinase RET plays a critical role in the fate specification of enteric
neural crest–derived cells (ENCDCs) during enteric nervous system (ENS) development …

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

TA Heanue, V Pachnis - Proceedings of the National …, 2006 - National Acad Sciences
The enteric nervous system (ENS) is composed of neurons and glial cells, organized as
interconnected ganglia within the gut wall, which controls persistalsis of the gut wall and …

[HTML][HTML] Glial cell-derived neurotrophic factor induces enteric neurogenesis and improves colon structure and function in mouse models of Hirschsprung disease

R Soret, S Schneider, G Bernas, B Christophers… - Gastroenterology, 2020 - Elsevier
Background & Aims Hirschsprung disease (HSCR) is a life-threatening birth defect in which
the distal colon is devoid of enteric neural ganglia. HSCR is treated by surgical removal of …

Lineage-dependent spatial and functional organization of the mammalian enteric nervous system

R Lasrado, W Boesmans, J Kleinjung, C Pin, D Bell… - Science, 2017 - science.org
The enteric nervous system (ENS) is essential for digestive function and gut homeostasis.
Here we show that the amorphous neuroglia networks of the mouse ENS are composed of …

Characterization of fetal and postnatal enteric neuronal cell lines with improvement in intestinal neural function

M Anitha, I Joseph, X Ding, ER Torre, MA Sawchuk… - Gastroenterology, 2008 - Elsevier
Background & Aims: The isolation and culture of primary enteric neurons is a difficult
process and yields a small number of neurons. We developed fetal and postnatal enteric …

Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice

T Uesaka, M Nagashimada… - The Journal of …, 2008 - Am Soc Clin Investig
Mutations in the RET gene are the primary cause of Hirschsprung disease (HSCR), or
congenital intestinal aganglionosis. However, how RET malfunction leads to HSCR is not …

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

M Angrist, S Bolk, M Halushka, PA Lapchak… - Nature …, 1996 - nature.com
Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common
cause of congenital bowel obstruction with an incidence of 1 in 5000 live births1. HSCR may …

Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease

F Fattahi, JA Steinbeck, S Kriks, J Tchieu, B Zimmer… - Nature, 2016 - nature.com
The enteric nervous system (ENS) is the largest component of the autonomic nervous
system, with neuron numbers surpassing those present in the spinal cord. The ENS has …