ReviewFrontiers in pediatrics2021
The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.
Review in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 52 citations in OpenAlex.
- Predictive role of ultrasonography in the early diagnosis of Hirschsprung's disease in neonates and infants: an observational diagnostic study.Emergency radiology · 2026Observational
- Dysregulation of GDNF and GFRα1 expression in multifactorial Hirschsprung disease.BMC research notes · 2026Article
- Aberrant Expressions ofCurrent pediatric reviews · 2026Article
- Extracellular vesicle-mediated transfer of MIR22HG inhibits the colonization of enteric neural crest cells in the colon by decreasing MPP3 expression.Communications biology · 2025Article
- Retinoic Acid Inhibition Alters Intestinal Composition in Zebrafish: A Non-genetic Model to Study Hirschsprung Disease?Neurogastroenterology and motility · 2025Article
- Plasma-derived exosomal miR-34a-5p: a potential diagnostic biomarker for total colonic aganglionosis.Translational pediatrics · 2025Article
- Genomic testing for RET in the clinic: UK and global perspective.Endocrine-related cancer · 2025Review
- Association of the RET Intronic Variant rs2435357 on Hirschsprung's Disease Susceptibility: A Systematic Review and Meta-Analysis.Iranian journal of public health · 2025Review
- Histopathologic Concerns and Diagnostic Challenges in Hirschsprung's Disease: An Eastern European Single-Center Observational Study.Life (Basel, Switzerland) · 2025Article
- Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.Clinical genetics · 2025Article
- Mechanism of Endogenous Peptide PDYBX1 and Precursor Protein YBX1 in Hirschsprung's Disease.Neuroscience bulletin · 2024Article
- Efficient enzyme-free method to assess the development and maturation of the innate and adaptive immune systems in the mouse colon.Scientific reports · 2024Article
- Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.BMC pediatrics · 2024Article
- High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Pediatric surgery international · 2024Article
- Causes and consequences: development and pathophysiology of Hirschsprung disease.World journal of pediatric surgery · 2024Review
- Endothelin signaling in development.Development (Cambridge, England) · 2023Review
- Establishment and identification of an animal model of Hirschsprung disease in suckling mice.Pediatric research · 2023Article
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- A Roadmap for the Human Gut Cell Atlas.Nature reviews. Gastroenterology & hepatology · 2023Review
- Downregulation of miR-144 blocked the proliferation and invasion of nerve cells in Hirschsprung disease by regulating Transcription Factor AP 4 (TFAP4).Pediatric surgery international · 2023Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 births. HSCR is characterized by the absence of enteric ganglia in the distal colon, plausibly due to genetic defects perturbing the normal migration, proliferation, differentiation, and/or survival of the enteric neural crest cells as well as impaired interaction with the enteric progenitor cell niche. Early linkage analyses in Mendelian and syndromic forms of HSCR uncovered variants with large effects in major HSCR genes including
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.