A novel structural variant of <em>RET</em> causes familial Hirschsprung's disease via nonsense-mediated mRNA decay

Qi Wang; Siyu Pu; Bo Xiang; Jing Chen

doi:10.1016/j.gendis.2023.03.008

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A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay

Editorial | 更新时间：2024-02-04

- A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay
- Genes & Diseases Vol. 1, Issue 1, Pages: 7-10(2024)
- 作者机构：
  
  Department of Pediatric Surgery and Laboratory of Pediatric Surgery, Rare Diseases Center, Institute of Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University,Sichuan,Chengdu,China,610041
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.03.008
  CLC：
- Published：2024，
  
  Published Online：1 January 2024，
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Qi Wang, Siyu Pu, Bo Xiang, et al. A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay. [J]. Genes & Diseases 1(1):7-10(2024)
DOI：

Qi Wang, Siyu Pu, Bo Xiang, et al. A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay. [J]. Genes & Diseases 1(1):7-10(2024) DOI： 10.1016/j.gendis.2023.03.008.

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1 P.K.H. Tam, P.H.Y. Chung, S.D. St Peter, et al.Advances in paediatric gastroenterology Lancet, 390 (10099) (2017), pp. 1072-1082

2 S. Chatterjee, A. Kapoor, J.A. Akiyama, et al.Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease Cell, 167 (2) (2016), pp. 355-368

3 J.M. Tilghman, A.Y. Ling, T.N. Turner, et al.Molecular genetic anatomy and risk profile of Hirschsprung's disease N Engl J Med, 380 (15) (2019), pp. 1421-1432

4 Y.K. Kim, L.E. MaquatUPFront and center in RNA decay: UPF1 in nonsense-mediated mRNA decay and beyond RNA, 25 (4) (2019), pp. 407-422

5 T. Kawano, K. Hosomichi, I. Inoue, et al.Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease Pediatr Surg Int, 33 (10) (2017), pp. 1041-1046

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