ReviewPediatric surgery international2018
A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.
Review in Pediatric surgery international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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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Who cites it
17 citing papers in PubMed, 43 citations in OpenAlex.
- Trial
- Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.Frontiers in pediatrics · 2026Article
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- Rack1-mediated ferroptosis affects hindgut development in rats with anorectal malformations: Spatial transcriptome insights.Cell proliferation · 2024Article
- Article
- CircJag1 promotes apoptosis of ethylene thiourea-exposed anorectal malformations through sponging miR-137-3p by regulating Sox9 and suppressing Wnt/β-catenin pathway during the hindgut development of rat embryos.Cell biology and toxicology · 2023Article
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.Health promotion and chronic disease prevention in Canada : research, policy and practice · 2023Article
- Colonic tubular duplication combined with congenital megacolon: A case report.World journal of clinical cases · 2022Article
- Wnt5a plays a critical role in anal opening in mice at an early stage of embryonic development.Pediatric surgery international · 2022Article
- Congenital anomalies of the tubular gastrointestinal tract.Pathologica · 2022Review
- [Anorectal malformations: a 6-years review at the University Clinics of Lubumbashi].The Pan African medical journal · 2021Article
- RNA-Seq Profiling of Circular RNAs During Development of Hindgut in Rat Embryos With Ethylenethiourea-Induced Anorectal Malformations.Frontiers in genetics · 2021Article
- Article
- Biomarker discovery for predicting spontaneous preterm birth from gene expression data by regularized logistic regression.Computational and structural biotechnology journal · 2020Article
- Integrating lncRNAs and mRNAs expression profiles in terminal hindgut of fetal rats with anorectal malformations.Pediatric surgery international · 2018Article
- Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAnorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. MATERIALS AND
methodsLiterature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included. OBSERVATIONS AND
resultsA paradigm shift was observed from the earlier studies concentrating on genetic aberrations in specific pathways to genome wide arrays exploring single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in ARM patients. Rare CNVs (including 79 genes) and SNPs have been found to genetically contribute to ARM. Out of disrupted 79 genes one such putative gene is DKK4. Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. In syndromic ARM de novo microdeletion at 17q12 and a few others have been identified.
conclusionMajor genetic aberrations proposed in the pathogenesis of ARM affect members of the Wnt, Hox (homebox) genes, Sonic hedgehog (Shh) and Gli2, Bmp4, Fgf and CDX1 signalling pathways; probable targets of future molecular gene therapy.
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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.