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Article: Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

TitleGene Network Analysis of Candidate Loci for Human Anorectal Malformations
Authors
Issue Date2013
Citation
PLoS ONE, 2013, v. 8, n. 8 How to Cite?
AbstractAnorectal 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. © 2013 Wong et al.
Persistent Identifierhttp://hdl.handle.net/10722/220754
ISSN
2015 Impact Factor: 3.057
2015 SCImago Journal Rankings: 1.395
PubMed Central ID

 

DC FieldValueLanguage
dc.contributor.authorWong, Emily H M-
dc.contributor.authorNg, Chun Laam-
dc.contributor.authorLui, Vincent Chi Hang-
dc.contributor.authorSo, Man ting-
dc.contributor.authorCherny, Stacey S.-
dc.contributor.authorSham, Pak Chung-
dc.contributor.authorTam, Paul Kwong Hang-
dc.contributor.authorGarcia-Barceló, Maria Mercè-
dc.date.accessioned2015-10-16T06:50:27Z-
dc.date.available2015-10-16T06:50:27Z-
dc.date.issued2013-
dc.identifier.citationPLoS ONE, 2013, v. 8, n. 8-
dc.identifier.issn1932-6203-
dc.identifier.urihttp://hdl.handle.net/10722/220754-
dc.description.abstractAnorectal 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. © 2013 Wong et al.-
dc.languageeng-
dc.relation.ispartofPLoS ONE-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleGene Network Analysis of Candidate Loci for Human Anorectal Malformations-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1371/journal.pone.0069142-
dc.identifier.pmid23936318-
dc.identifier.pmcidPMC3731316-
dc.identifier.scopuseid_2-s2.0-84880981183-
dc.identifier.hkuros217531-
dc.identifier.volume8-
dc.identifier.issue8-

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