ArticlePloS one2013
Gene network analysis of candidate loci for human anorectal malformations.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Trial
- RNA-Seq Profiling of Circular RNAs During Development of Hindgut in Rat Embryos With Ethylenethiourea-Induced Anorectal Malformations.Frontiers in genetics · 2021Article
- Microarray analysis of miRNAs during hindgut development in rat embryos with ethylenethiourea‑induced anorectal malformations.International journal of molecular medicine · 2018Article
- Integrating lncRNAs and mRNAs expression profiles in terminal hindgut of fetal rats with anorectal malformations.Pediatric surgery international · 2018Article
- A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Pediatric surgery international · 2018Review
- Article
- Anorectal malformation: the etiological factors.Pediatric surgery international · 2015Review
- The great divide: septation and malformation of the cloaca, and its implications for surgeons.Pediatric surgery international · 2014Review
- Defining the molecular pathologies in cloaca malformation: similarities between mouse and human.Disease models & mechanisms · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic morbidity. Our earlier genome-wide copy number variation (CNV) study had provided a wealth of candidate loci. To find out whether these candidate loci are related to important developmental pathways, we have performed an extensive literature search coupled with the currently available bioinformatics tools. This has allowed us to assign both genic and non-genic CNVs to interrelated pathways known to govern the development of the anorectal region. We have linked 11 candidate genes to the WNT signalling pathway and 17 genes to the cytoskeletal network. Interestingly, candidate genes with similar functions are disrupted by the same type of CNV. The gene network we discovered provides evidence that rare mutations in different interrelated genes may lead to similar phenotypes, accounting for genetic heterogeneity in ARMs. Classification of patients according to the affected pathway and lesion type should eventually improve the diagnosis and the identification of common genes/molecules as therapeutic targets.
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