ReviewPediatric research2017
Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.
Review in Pediatric research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Hirschsprung disease and associated urological morbidities: institutional experience and systemic review.World journal of urology · 2026Pooled it
- iRUNNER: A Baseline Mutation Burden Regression for Identifying Gene Interaction Between Rare Variants for Diseases.Genomics, proteomics & bioinformatics · 2025Article
- miR-146b-5p Regulates the Enteric Nervous System Development in Hirschsprung Disease via Targeting RET Pathway.Biochemical genetics · 2025Article
- Plasma NMDAR autoantibody: a new biomarker for the diagnosis of Hirschsprung disease.Frontiers in pediatrics · 2025Article
- Hirschsprung's disease: m6A methylase VIRMA suppresses cell migration and proliferation by regulating GSK3β.Pediatric research · 2024Article
- Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease.Biomolecules · 2024Article
- Causes and consequences: development and pathophysiology of Hirschsprung disease.World journal of pediatric surgery · 2024Review
- 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
- Editorial: Hirschsprung disease: genetic susceptibility, disease mechanisms and innovative management in the multi-omics era.Frontiers in pediatrics · 2023Article
- Weighted gene co-expression network analysis and CIBERSORT screening of key genes related to m6A methylation in Hirschsprung's disease.Frontiers in genetics · 2023Article
- Identifying the potential transcriptional regulatory network in Hirschsprung disease by integrated analysis of microarray datasets.World journal of pediatric surgery · 2023Article
- Clinical significance and biological effect of ZFAS1 in Hirschsprung's disease and preliminary exploration of its underlying mechanisms using integrated bioinformatics analysis.Irish journal of medical science · 2022Article
- Down-Regulation of Double C2 Domain Alpha Promotes the Formation of Hyperplastic Nerve Fibers in Aganglionic Segments of Hirschsprung's Disease.International journal of molecular sciences · 2022Article
- Hirschsprung's disease: key microRNAs and target genes.Pediatric research · 2022Article
- Surgical Pathology Diagnostic Pitfalls of Hepatoblastoma.International journal of surgical pathology · 2022Review
- Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.Frontiers in genetics · 2022Article
- RET receptor signaling: Function in development, metabolic disease, and cancer.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2022Review
- Systematic screen of potential circular RNA biomarkers of Hirschsprung's disease.Translational pediatrics · 2022Article
- Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.Journal of clinical laboratory analysis · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract. This review focuses on current understanding of genes and pathways associated with HSCR and summarizes recent knowledge related to micro RNAs (miRNAs) and HSCR pathogenesis. While commonly sporadic, Mendelian patterns of inheritance have been described in syndromic cases with HSCR. Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules with common functions may be associated with HSCR in different populations. This comprehensive profile of functional gene modules may serve as a useful resource for future developmental, biochemical, and genetic studies providing insights into the complex nature of HSCR.
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Registered trials
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.