scholarly journals Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus

2005 ◽  
Vol 77 (5) ◽  
pp. 851-868 ◽  
Author(s):  
Rym Benayed ◽  
Neda Gharani ◽  
Ian Rossman ◽  
Vincent Mancuso ◽  
Gloria Lazar ◽  
...  
2004 ◽  
Vol 9 (5) ◽  
pp. 474-484 ◽  
Author(s):  
N Gharani ◽  
R Benayed ◽  
V Mancuso ◽  
L M Brzustowicz ◽  
J H Millonig

2004 ◽  
Vol 9 (5) ◽  
pp. 540-540
Author(s):  
N Gharani ◽  
R Benayed ◽  
V Mancuso ◽  
L M Brzustowicz ◽  
J H Millonig

2008 ◽  
Vol 57 (1-2) ◽  
pp. 3-8 ◽  
Author(s):  
Pinchen Yang ◽  
For-Wey Lung ◽  
Yuh-Jyh Jong ◽  
Hsin-Yi Hsieh ◽  
Chung-Ling Liang ◽  
...  

PLoS Genetics ◽  
2021 ◽  
Vol 17 (2) ◽  
pp. e1009309
Author(s):  
Kunling Huang ◽  
Yuchang Wu ◽  
Junha Shin ◽  
Ye Zheng ◽  
Alireza Fotuhi Siahpirani ◽  
...  

Recent advances in consortium-scale genome-wide association studies (GWAS) have highlighted the involvement of common genetic variants in autism spectrum disorder (ASD), but our understanding of their etiologic roles, especially the interplay with rare variants, is incomplete. In this work, we introduce an analytical framework to quantify the transmission disequilibrium of genetically regulated gene expression from parents to offspring. We applied this framework to conduct a transcriptome-wide association study (TWAS) on 7,805 ASD proband-parent trios, and replicated our findings using 35,740 independent samples. We identified 31 associations at the transcriptome-wide significance level. In particular, we identified POU3F2 (p = 2.1E-7), a transcription factor mainly expressed in developmental brain. Gene targets regulated by POU3F2 showed a 2.7-fold enrichment for known ASD genes (p = 2.0E-5) and a 2.7-fold enrichment for loss-of-function de novo mutations in ASD probands (p = 7.1E-5). These results provide a novel connection between rare and common variants, whereby ASD genes affected by very rare mutations are regulated by an unlinked transcription factor affected by common genetic variations.


1996 ◽  
Vol 14 (4) ◽  
pp. 392-399 ◽  
Author(s):  
Elena V. Semina ◽  
Rebecca Reiter ◽  
Nancy J. Leysens ◽  
W. Lee M. Alward ◽  
Kent W. Small ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Yan Xu ◽  
Jingjing Gao ◽  
Zhaoliang Su ◽  
Xiaoli Dai ◽  
Yazhen Li ◽  
...  

T-betplays an important role in immunoregulation; it induces the differentiation of Th1 together with the homeobox transcription factor geneHlx. Recent studies show thatT-betand Th1-associated factors are critical in regulating tumor development. However, the contributions ofHlxin the occurrence and development of cancer remain unknown. In this study, theHlx,T-bet,Runx3, and IFN-γwere measured in PBMC from patients with gastric cancer and the correlation betweenHlxandT-betor IFN-γwas assessed. The expression levels ofHlx,T-bet, andIFN-γwere significantly decreased, and there was a positive correlation betweenHlxandT-betor IFN-γ. In addition, theRunx3expression was also downregulated with the lowerT-betmRNA level. These results suggested that the decreasedHlxexpression was closely associated withT-betandRunx3downregulations and may contribute to the development of gastric cancer.


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