Hirschsprung disease

L Montalva, LS Cheng, R Kapur, JC Langer… - Nature Reviews …, 2023 - nature.com
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

Disorders of the enteric nervous system—a holistic view

B Niesler, S Kuerten, IE Demir… - … reviews Gastroenterology & …, 2021 - nature.com
The enteric nervous system (ENS) is the largest division of the peripheral nervous system
and closely resembles components and functions of the central nervous system. Although …

The enteric nervous system in gastrointestinal disease etiology

AM Holland, AC Bon-Frauches, D Keszthelyi… - Cellular and Molecular …, 2021 - Springer
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous
system (ENS), is positioned along the wall of the gut to coordinate digestive processes and …

Diagnosis of Hirschsprung disease

L Ambartsumyan, C Smith… - Pediatric and …, 2020 - journals.sagepub.com
Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any
pediatric hospital. Although HSCR may present at different ages and with varied clinical …

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

JD Dougherty, N Marrus, SE Maloney, B Yip, S Sandin… - Neuron, 2022 - cell.com
Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

[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 …

Endothelin: 30 years from discovery to therapy

M Barton, M Yanagisawa - Hypertension, 2019 - ahajournals.org
Discovered in 1987 as a potent endothelial cell–derived vasoconstrictor peptide, endothelin-
1 (ET-1), the predominant member of the endothelin peptide family, is now recognized as a …

The science of Hirschsprung disease: what we know and where we are headed

JL Mueller, AM Goldstein - Seminars in pediatric surgery, 2022 - Elsevier
The enteric nervous system (ENS) is a rich network of neurons and glial cells that comprise
the gastrointestinal tract's intrinsic nervous system and are responsible for controlling …

Genetics of Hirschsprung's disease

CS Tang, A Karim, Y Zhong, PH Chung… - Pediatric Surgery …, 2023 - Springer
Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in
approximately 2–2.8 in 10,000 newborns. It is the commonest form of congenital bowel …

The emerging genetic landscape of Hirschsprung disease and its potential clinical applications

A Karim, CSM Tang, PKH Tam - Frontiers in Pediatrics, 2021 - frontiersin.org
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …