scholarly journals EDNRB Gene

2020 ◽  
Author(s):  
Keyword(s):  
Ednrb Gene

A novel stop mutation in the EDNRB gene in a family with Hirschsprung’s disease associated with Multiple Sclerosis

2014 ◽  
Vol 49 (4) ◽  
pp. 622-625 ◽  
Author(s):  
Anna Löf Granström ◽  
Ellen Markljung ◽  
Katharina Fink ◽  
Edvard Nordenskjöld ◽  
Daniel Nilsson ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Stop Mutation ◽  
Ednrb Gene

scholarly journals Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Yi Zheng ◽  
ChaoTing Lan ◽  
Ning Wang ◽  
Xiaogang Xu ◽  
Tuqun Hu ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Significant Risk ◽  
Hirschsprung Disease ◽  
Recessive Model ◽  
Abnormal Development ◽  
Chinese Han ◽  
Southern Chinese ◽  
Ednrb Gene ◽  
Genetic And Environmental Factors

Hirschsprung disease (HSCR) is a human birth defect at the clinical setting, usually characterized by an absent enteric nervous system (ENS) from the distal bowel. The majority of HSCR cases represent a complex disorder resulting from the interaction of multiple genetic and environmental factors. Genetic events have been described to be involved in the abnormal development of the enteric nervous system. Although variants in several genes like RET and EDNRB have been suggested to contribute major risks to HSCR, very little is known about their involvement in the onset of HSCR. Here, we studied a large Chinese Han cohort consisting of 1,470 HSCR patients and 1,473 non-HSCR controls to further test whether there are more variants in EDNRB associated with HSCR. Our results provided the first evidence that rs2147555 in EDNRB confers a significant risk of HSCR in a Chinese Han population for both allelic frequencies ( P = 4.16 × 10 − 3 ; OR = 1.29 ) and genotypic frequencies assuming either a dominant or recessive model ( P = 0.011 and P = 0.027 , respectively). When different subtypes of HSCR cases were analyzed, the association remained significant ( OR = 1.33 , P = 0.003 for short-segment HSCR; OR = 1.34 , P = 0.044 for long segment HSCR).

H3K9me3 Binding to the DNA Promoter Causes the Inactivation of EDNRB Gene in ACC Tumors

2015 ◽  
Vol 119 (3) ◽  
pp. e183
Author(s):  
Rong Hui Xia ◽  
Chun Ye Zhang ◽  
Yu Hua Hu ◽  
Ting Gu ◽  
Li Zhen Wang ◽  
...  
Keyword(s):  
Ednrb Gene

scholarly journals A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

2019 ◽  
Vol 08 (03) ◽  
pp. 142-146
Author(s):  
Trassanee Chatmethakul ◽  
Rozaleen Phaltas ◽  
Gwen Minzes ◽  
Jose Martinez ◽  
Ramachandra Bhat
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Interstitial Deletion ◽  
Intestinal Malrotation ◽  
Deletion Syndrome ◽  
Gastrointestinal Complications ◽  
Dysmorphic Features ◽  
Rare Association ◽  
Ednrb Gene ◽  
Male Neonate

AbstractWe report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.

EDNRB gene variants and melanoma risk in two southern European populations

2011 ◽  
Vol 36 (7) ◽  
pp. 782-787 ◽  
Author(s):  
T. Spica ◽  
M. C. Fargnoli ◽  
G. Hetet ◽  
G. Bertrand ◽  
F. Formicone ◽  
...  
Keyword(s):  
Gene Variants ◽  
Melanoma Risk ◽  
Ednrb Gene ◽  
European Populations

scholarly journals A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease

2006 ◽  
Vol 105 (4) ◽  
pp. 349-354 ◽  
Author(s):  
Wen-Chau Chen ◽  
Ming-Che Tsai ◽  
Shen-Shun Chang ◽  
Edgar D. Sy
Keyword(s):  
De Novo ◽  
Novel Mutation ◽  
Hirschsprung Disease ◽  
Ednrb Gene

scholarly journals Re-expression of the methylated EDNRB gene in oral squamous cell carcinoma attenuates cancer-induced pain

Pain ◽  
2011 ◽  
Vol 152 (10) ◽  
pp. 2323-2332 ◽  
Author(s):  
Chi T. Viet ◽  
Yi Ye ◽  
Dongmin Dang ◽  
David K. Lam ◽  
Stacy Achdjian ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Ednrb Gene
Sign in / Sign up

Export Citation Format

Share Document