The emerging genetic landscape of Hirschsprung disease and its potential clinical applications
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 …
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …
Genetics of Hirschsprung's disease
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 …
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 …
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 …
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 …
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 …
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 …
nervous system development due to a failure in migration, proliferation, differentiation and/or …
Role of carotenoids and retinoids during heart development
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 …
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 …
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 …
mutations in each subunit of TRiC/CCT are associated with various human …