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 …

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 …

[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 …

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

TL Le, L Galmiche, J Levy… - The Journal of …, 2021 - Am Soc Clin Investig
Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric
nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo …

Roles of enteric neural stem cell niche and enteric nervous system development in Hirschsprung disease

Y Ji, PKH Tam, CSM Tang - International Journal of Molecular Sciences, 2021 - mdpi.com
The development of the enteric nervous system (ENS) is highly modulated by the
synchronized interaction between the enteric neural crest cells (ENCCs) and the neural …

“Too much guts and not enough brains”:(epi) genetic mechanisms and future therapies of Hirschsprung disease—a review

EG Jaroy, L Acosta-Jimenez, R Hotta, AM Goldstein… - Clinical …, 2019 - Springer
Hirschsprung disease is a neurocristopathy, characterized by aganglionosis in the distal
bowel. It is caused by failure of the enteric nervous system progenitors to migrate, proliferate …

What is new about the genetic background of Hirschsprung disease?

B Luzón‐Toro, L Villalba‐Benito, A Torroglosa… - Clinical …, 2020 - Wiley Online Library
Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric
nervous system development due to a failure in migration, proliferation, differentiation and/or …

Role of carotenoids and retinoids during heart development

IO Sirbu, AR Chiş, AR Moise - … et Biophysica Acta (BBA)-Molecular and Cell …, 2020 - Elsevier
The nutritional requirements of the developing embryo are complex. In the case of dietary
vitamin A (retinol, retinyl esters and provitamin A carotenoids), maternal derived nutrients …

[HTML][HTML] Cell-autonomous retinoic acid receptor signaling has stage-specific effects on mouse enteric nervous system

T Gao, EC Wright-Jin, R Sengupta, JB Anderson… - JCI insight, 2021 - ncbi.nlm.nih.gov
Retinoic acid (RA) signaling is essential for enteric nervous system (ENS) development,
since vitamin A deficiency or mutations in RA signaling profoundly reduce bowel …

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance

A Suga, Y Minegishi, M Yamamoto, K Ueda… - Communications …, 2024 - nature.com
TRiC/CCT is a chaperonin complex required for the folding of cytoplasmic proteins. Although
mutations in each subunit of TRiC/CCT are associated with various human …