Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line-Reference-Cited by-同舟云学术

Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line

Published:2016 Issue:3 Volume:65 Page:245-251
ISSN:1341-1357
Container-title:Experimental Animals
language:en
Short-container-title:Exp. Anim.

Author:

Chen Bing¹²³,Ouyang Hui-Ling²,Wang Wen-Hua²,Yin Yi-Heng²,Yan Lin-Na²,Yang Bin²,Xue Zheng-Feng¹²³

Affiliation:

1. Comparative Medicine Center, Yangzhou University, Yangzhou, P.R. China

2. College of Veterinary Medicine, Yangzhou University, Yangzhou, P.R. China

3. Jiangsu Co-innovation Center for Prevention and Control of Important Animal Infectious Diseases and Zoonoses, Yangzhou University, Yangzhou, P.R. China

Publisher

Japanese Association for Laboratory Animal Science

Subject

General Veterinary,General Biochemistry, Genetics and Molecular Biology,Animal Science and Zoology,General Medicine

Link

https://www.jstage.jst.go.jp/article/expanim/65/3/65_15-0110/_pdf

Reference22 articles.

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2. 2. Amiel J., Sproat-Emison E., Garcia-Barcelo M., Lantieri F., Burzynski G., Borrego S., Pelet A., Arnold S., Miao X., Griseri P., Brooks A.S., Antinolo G., de Pontual L., Clement-Ziza M., Munnich A., Kashuk C., West K., Wong K.K., Lyonnet S., Chakravarti A., Tam P.K., Ceccherini I., Hofstra R.M., Fernandez R., Hirschsprung Disease Consortium 2008. Hirschsprung disease, associated syndromes and genetics: a review. J. Med. Genet. 45: 1–14.

3. 3. Angrist M., Bolk S., Halushka M., Lapchak P.A., and Chakravarti A. 1996. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat. Genet. 14: 341–344.

4. 4. Attié T., Till M., Pelet A., Amiel J., Edery P., Boutrand L., Munnich A., and Lyonnet S. 1995. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum. Mol. Genet. 4: 2407–2409.

5. 5. Auricchio A., Casari G., Staiano A., and Ballabio A. 1996. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum. Mol. Genet. 5: 351–354.

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