Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
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DOI：
10.1002/ajmg.a.35665
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发表时间：
2012-12
影响因子：
2
通讯作者：
Pober, Barbara R.
中科院分区：
文献类型：
--
作者：
Longoni, Mauro;Lage, Kasper;Russell, Meaghan K.;Loscertales, Maria;Abdul-Rahman, Omar A.;Baynam, Gareth;Bleyl, Steven B.;Brady, Paul D.;Breckpot, Jeroen;Chen, Chih P.;Devriendt, Koenraad;Gillessen-Kaesbach, Gabriele;Grix, Arthur W.;Rope, Alan F.;Shimokawa, Osamu;Strauss, Bernarda;Wieczorek, Dagmar;Zackai, Elaine H.;Coletti, Caroline M.;Maalouf, Faouzi I.;Noonan, Kristin M.;Park, Ji H.;Tracy, Adam A.;Lee, Charles;Donahoe, Patricia K.;Pober, Barbara R.
关键词：
Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n =18) or a gain (n =1) of sub-band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein–protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects. Sequence analysis of these genes in 226 chromosomally normal CDH patients, as well as in a small number of deletion 8p23.1 patients, showed rare unreported variants in the coding region; these may be contributing to the diaphragmatic phenotype. We also demonstrated that two of these three genes were expressed in the E11.5–12.5 primordial mouse diaphragm, the developmental stage at which CDH is thought to occur. This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks.
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人类8p23.1反演多态性的核苷酸，细胞遗传学和表达影响。
影响因子：
3.7
作者：
Bosch N;Morell M;Ponsa I;Mercader JM;Armengol L;Estivill X
通讯作者：
Estivill X
影响因子：
1.9
作者：
Ballarati, Lucia;Cereda, Anna;Giardino, Daniela
通讯作者：
Giardino, Daniela
影响因子：
9.8
作者：
Giglio, S;Broman, KW;Zuffardi, O
通讯作者：
Zuffardi, O
影响因子：
3.9
作者：
Groth, Marco;Szafranski, Karol;Platzer, Matthias
通讯作者：
Platzer, Matthias
DOI：
10.1007/bf00303142
发表时间：
1984-01-01
期刊：
ANATOMY AND EMBRYOLOGY
影响因子：
--
作者：
IRITANI, I
通讯作者：
IRITANI, I