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Dietary modification, penetrance, and the origins of congenital malformation.

作者信息

Gibson Greg, Berger Kiera

机构信息

School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332

School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332.

出版信息

Proc Natl Acad Sci U S A. 2020 Mar 10;117(10):5097-5099. doi: 10.1073/pnas.2000944117. Epub 2020 Feb 18.

DOI:10.1073/pnas.2000944117
PMID:32071229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7071905/
Abstract
摘要

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NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.由于环境因素或基因-环境相互作用导致的 NAD 缺乏会引起小鼠的先天性畸形和流产。
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2
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.NADSYN1 中的双等位基因突变导致多种器官缺陷，并扩展了先天性 NAD 缺乏症的基因型谱。
Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26.
3
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.功能基因组学和基因-环境相互作用突出了 Notch 通路变异导致先天性心脏病的复杂性。
Hum Mol Genet. 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270.
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.一项在重症婴儿中比较单体和 trio、快速基因组和外显子组测序的分析和诊断性能的随机、对照试验。
Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi: 10.1016/j.ajhg.2019.08.009. Epub 2019 Sep 26.
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Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.
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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.利用旧数据进行新的基因诊断：对 1133 个发育障碍家系的全基因组数据进行迭代重分析和报告。
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