ArticleOrphanet journal of rare diseases2013
Pathways systematically associated to Hirschsprung's disease.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.The Journal of clinical investigation · 2015Trial
- Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease.Biomolecules · 2024Article
- Disorders of the enteric nervous system - a holistic view.Nature reviews. Gastroenterology & hepatology · 2021Review
- CSVS, a crowdsourcing database of the Spanish population genetic variability.Nucleic acids research · 2021Article
- Leveraging human genetic and adverse outcome pathway (AOP) data to inform susceptibility in human health risk assessment.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Article
- Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Pediatric research · 2017Review
- Geminin prevents DNA damage in vagal neural crest cells to ensure normal enteric neurogenesis.BMC biology · 2016Article
- 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.Molecular biology and evolution · 2016Article
- Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.BMC medical genomics · 2015Article
- Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Scientific reports · 2015Article
- Hirschsprung's disease: Historical notes and pathological diagnosis on the occasion of the 100(th) anniversary of Dr. Harald Hirschsprung's death.World journal of clinical pediatrics · 2015Review
- Eukaryotic enhancers: common features, regulation, and participation in diseases.Cellular and molecular life sciences : CMLS · 2015Review
- Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.International journal of clinical and experimental pathology · 2015Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite it has been reported that several loci are involved in Hirschsprung's disease, the molecular basis of the disease remains yet essentially unknown. The study of collective properties of modules of functionally-related genes provides an efficient and sensitive statistical framework that can overcome sample size limitations in the study of rare diseases. Here, we present the extension of a previous study of a Spanish series of HSCR trios to an international cohort of 162 HSCR trios to validate the generality of the underlying functional basis of the Hirschsprung's disease mechanisms previously found. The Pathway-Based Analysis (PBA) confirms a strong association of gene ontology (GO) modules related to signal transduction and its regulation, enteric nervous system (ENS) formation and other processes related to the disease. In addition, network analysis recovers sub-networks significantly associated to the disease, which contain genes related to the same functionalities, thus providing an independent validation of these findings. The functional profiles of association obtained for patients populations from different countries were compared to each other. While gene associations were different at each series, the main functional associations were identical in all the five populations. These observations would also explain the reported low reproducibility of associations of individual disease genes across populations.
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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.