Approaches to studying the genomic architecture of complex birth defects.
Every year nearly 6 percent of children worldwide are born with a serious congenital malformation, resulting in death or lifelong disability. In the United States, birth defects remain one of the leading causes of infant mortality. Among the common structural congenital defects are conditions known...
| Publicado en: | Prenatal Diagnosis Vol. 40; no. 9; pp. 1047 - 1056 |
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| Autores principales: | , , , , |
| Formato: | review Journal Article |
| Publicado: |
Wiley-Blackwell
Aug2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=145299501&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 145299501 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01973851 O9F jtl: Prenatal Diagnosis issn: 01973851 maglogo: Y pubinfo: dt: Aug2020 vid: 40 iid: 9 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 145299501 145299501 145796510 NLM32468575 145299501 10.1002/pd.5760 NLM32468575 145299501 ppf: 1047 ppct: 9 formats: tig: atl: Approaches to studying the genomic architecture of complex birth defects. aug: au: Taiwo, Toluwani E. Cao, Xuanye Cabrera, Robert M. Lei, Yunping Finnell, Richard H. affil: Rice University, Houston Texas, USA sug: subj: Neural Tube Defects Genomics Methods Female Prenatal Exposure Delayed Effects Embryonic Structures Metabolism Animals Embryonic Structures Abnormalities Etiology Anticonvulsants Adverse Effects Pregnancy Neural Tube Defects Epidemiology Fetal Development Abnormalities Epidemiology Genomics Trends Models, Biological Abnormalities Clinical Assessment Tools Scales Questionnaires Female ab: Every year nearly 6 percent of children worldwide are born with a serious congenital malformation, resulting in death or lifelong disability. In the United States, birth defects remain one of the leading causes of infant mortality. Among the common structural congenital defects are conditions known as neural tube defects (NTDs). These are a class of malformation of the brain and spinal cord where the neural tube fails to close during the neurulation. Although NTDs remain among the most pervasive and debilitating of all human developmental anomalies, there is insufficient understanding of their etiology. Previous studies have proposed that complex birth defects like NTDs are likely omnigenic, involving interconnected gene regulatory networks with associated signals throughout the genome. Advances in technologies have allowed researchers to more critically investigate regulatory gene networks in ever increasing detail, informing our understanding of the genetic basis of NTDs. Employing a systematic analysis of these complex birth defects using massively parallel DNA sequencing with stringent bioinformatic algorithms, it is possible to approach a greater level of understanding of the genomic architecture underlying NTDs. Herein, we present a brief overview of different approaches undertaken in our laboratory to dissect out the genetics of susceptibility to NTDs. This involves the use of mouse models to identify candidate genes, as well as large scale whole genome/whole exome (WGS/WES) studies to interrogate the genomic landscape of NTDs. The goal of this research is to elucidate the gene-environment interactions contributing to NTDs, thus encouraging global research efforts in their prevention. pubtype: Academic Journal doctype: review Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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