scholarly journals Role of RET and ko=PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population

Gut ◽  
2007 ◽  
Vol 56 (5) ◽  
pp. 736-736 ◽  
Author(s):  
X. Miao ◽  
M.-M. Garcia-Barcelo ◽  
M.-t. So ◽  
T. Y.-Y. Leon ◽  
D. K.-c. Lau ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Phox2b Gene

Multiple 'omics'-analysis reveals the role of prostaglandin E2 in Hirschsprung's disease

2021 ◽  
Vol 164 ◽  
pp. 390-398
Author(s):  
Weibing Tang ◽  
Minjian Chen ◽  
Xuejiang Guo ◽  
Kun Zhou ◽  
Zechao Wen ◽  
...  
Keyword(s):  
Prostaglandin E2 ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Omics Analysis

scholarly journals Diagnostic Role of Calretinin in Suspicious Cases of Hirschsprung’s Disease

Cureus ◽  
2021 ◽  
Author(s):  
Sanjeev K Singh ◽  
Umesh K Gupta ◽  
Roopak Aggarwal ◽  
Rafey A Rahman ◽  
Nand K Gupta ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Diagnostic Role

scholarly journals lncRNA-RMST functioned as a SOX2 transcription co-regulator to regulate miR-1251 in the progression of Hirschsprung’s disease

2020 ◽  
Author(s):  
Lingling Zhou ◽  
Zhengke Zhi ◽  
Pingfa Chen ◽  
Zhonghong Wei ◽  
Chunxia Du ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Hirschsprung Disease ◽  
Underlying Mechanism ◽  
Bioinformatic Analysis ◽  
Enteric Neurons ◽  
Intron Region ◽  
Non Coding Rnas ◽  
And Migration

ABSTRACTHirschsprung’s disease (HSCR) is a congenital disorder characterized by the absence of enteric neural crest cells (ENCCs). Non-coding RNAs including long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) have been authenticated as important regulators of biological functions. We conducted a microarray analysis and found lncRNA Rhabdomyosarcoma 2-associated transcript (RMST) was down-regulated in the stenotic segment of HSCR patients. MiR-1251 is transcribed from the intron region of RMST and was also low-expressed. When the expression of RMST or miR-1251 was reduced, the cell proliferation and migration were attenuated. However, RMST didn’t affect the expression of miR-1251 directly found in this study. Through bioinformatic analysis, transcription factor SOX2 was predicted to bind to the promoter region of miR-1251 which was confirmed by CHIP assay. Herein, we demonstrated that RMST exerted as a co-regulator of SOX2 to regulate the expression of miR-1251. Furtherly, AHNAK was proved to be the target gene of miR-1251 in this study. Taken together, we revealed the role of RMST/SOX2/miR-1251/AHNAK pathway in the occurrence of Hirschsprung’s disease and provided a potential therapeutic target for this disease.SUMMARY STATEMENTHirschsprung disease (HSCR) is characterized by a deficit in enteric neurons, however, the underlying mechanism remains unclear. This study revealed the role of lnc-RMST during the occurrence of HSCR.

A role of nitric oxide in Hirschsprung's disease

1995 ◽  
Vol 30 (3) ◽  
pp. 437-440 ◽  
Author(s):  
R. Tomita ◽  
K. Munakata ◽  
Y. Kurosu ◽  
K. Tanjoh
Keyword(s):  
Nitric Oxide ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease

Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population

2013 ◽  
Vol 47 (3) ◽  
pp. 957-966 ◽  
Author(s):  
Jun Yang ◽  
Shengyu Duan ◽  
Rong Zhong ◽  
Jieyun Yin ◽  
Jiarui Pu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Susceptible Gene
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