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Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.

作者信息

Ackerman Kate G, Pober Barbara R

机构信息

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):105-8. doi: 10.1002/ajmg.c.30133.

DOI:10.1002/ajmg.c.30133
PMID:17436306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2891760/
Abstract
摘要

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本文引用的文献

1
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.STRA6基因的突变会导致一系列广泛的畸形，包括无眼畸形、先天性心脏缺陷、膈疝、肺泡毛细血管发育不良、肺发育不全和智力迟钝。
Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29.
2
Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects--United States, 2003.2003年美国患有特定出生缺陷的婴儿的住院情况、住院费用及院内死亡情况
MMWR Morb Mortal Wkly Rep. 2007 Jan 19;56(2):25-9.
3
Gata4 is necessary for normal pulmonary lobar development.Gata4对于正常肺叶发育是必需的。
Am J Respir Cell Mol Biol. 2007 Apr;36(4):391-7. doi: 10.1165/rcmb.2006-0211RC. Epub 2006 Dec 1.
4
Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.Gata4突变小鼠间充质细胞功能受损导致膈疝和原发性肺缺陷。
Dev Biol. 2007 Jan 15;301(2):602-14. doi: 10.1016/j.ydbio.2006.09.050. Epub 2006 Oct 5.
5
Nuclear receptor binding to the retinoic acid response elements of the phosphoenolpyruvate carboxykinase gene in vivo: effects of vitamin A deficiency.体内核受体与磷酸烯醇式丙酮酸羧激酶基因的视黄酸反应元件的结合：维生素A缺乏的影响。
J Nutr Biochem. 2007 Mar;18(3):206-14. doi: 10.1016/j.jnutbio.2006.03.011. Epub 2006 May 19.
6
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.先天性膈疝（CDH）患者的比较基因组杂交（aCGH）研究结果：弗林斯综合征的一个可能基因座。
Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025.
7
Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.缺乏COUP-TFII的小鼠作为波奇达勒克型先天性膈疝的动物模型。
Proc Natl Acad Sci U S A. 2005 Nov 8;102(45):16351-6. doi: 10.1073/pnas.0507832102. Epub 2005 Oct 26.
8
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.由15q26.2和8p23.1染色体微缺失引起的弗林斯综合征表型。
J Med Genet. 2005 Sep;42(9):730-6. doi: 10.1136/jmg.2004.028787.
9
Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia.先天性膈疝的结局：西澳大利亚州的一项基于人群的研究。
Pediatrics. 2005 Sep;116(3):e356-63. doi: 10.1542/peds.2004-2845.
10
GATA-4:FOG interactions regulate gastric epithelial development in the mouse.GATA-4与FOG的相互作用调控小鼠胃上皮发育。
Dev Dyn. 2005 Oct;234(2):355-62. doi: 10.1002/dvdy.20552.