ArticleMolecular neurobiology2017
Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.
Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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.
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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.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- circANKRD12/circTIMMDC1 synergistically regulates enteric neural crest cell migration via miR-181b-5p-PROX1-NOTCH1 axis in Hirschsprung's disease.Pediatric research · 2026Article
- Total colonic aganglionosis: a bibliometric analysis of trends and themes (1978-2024).Orphanet journal of rare diseases · 2026Article
- Endothelin-3 and T-type CaNature communications · 2026Article
- Article
- Combined GWAS and single cell transcriptomics uncover the underlying genes and cell types in disorders of gut-brain interaction.medRxiv : the preprint server for health sciences · 2023Article
- Novel CausativeJournal of pediatric genetics · 2022Article
- Notch signaling pathway: architecture, disease, and therapeutics.Signal transduction and targeted therapy · 2022Review
- The advances of genetics research on Hirschsprung's disease.Pediatric investigation · 2018Review
- Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.Clinical and experimental medicine · 2018Article
- Stepwise approach to SNP-set analysis illustrated with the Metabochip and colorectal cancer in Japanese Americans of the Multiethnic Cohort.BMC genomics · 2018Article
- Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2018Article
- Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.Nature reviews. Gastroenterology & hepatology · 2018Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease (HSCR) is a rare congenital disease caused by impaired proliferation and migration of neural crest cells. In this study, we aimed to investigate the genetic loci involved in the pathogenesis of HSCR. The exome-wide scan was performed to screen the genetic variants with minor allele frequency (MAF) < 0.05 in exonic regions. Candidate mutation type and the wild type were overexpressed to investigate the affection on cell proliferation and migration. We found that ten variants were associated with HSCR at P < 10
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Identifiers
What OpenQuestion holds
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.