RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction-Reference-Cited by-同舟云学术

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RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction

Published:2021-01-12 Issue:5 Volume:140 Page:813-825
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Jiang Qian^ORCID,Wang Yang,Gao Yang,Wang Hui,Zhang Zhen,Li Qi,Xu Shuhua,Cai Wei,Li Long

Funder

the Chinese Academy of Medical Sciences Initiative for Innovative Medicine

the National Natural Science Foundation of China

Shanghai Municipal Population and Family Planning Commission

the Innovative Research Team of High-level Local Universities in Shanghai

the National Science Fund for Distinguished Young Scholars

the UK Royal Society-Newton Advanced Fellowship

Key Research Program of Frontier Sciences of the Chinese Academy of Sciences

the Shanghai Municipal Science and Technology Major Project

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition

the Public Welfare Industry Research Special Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-020-02247-y.pdf

Reference28 articles.

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

2. Bahrami A, Joodi M, Moetamani-Ahmadi M, Maftouh M, Hassanian SM, Ferns GA, Avan A (2018) Genetic background of Hirschsprung disease: a bridge between basic science and clinical application. J Cell Biochem 119(1):28–33

3. Berto S, Liu Y, Konopka G (2020) Genomics at cellular resolution: insights into cognitive disorders and their evolution. Hum Mol Genet 29(R1):R1–R9. https://doi.org/10.1093/hmg/ddaa117

4. Chakravarti A (1999) Population genetics–making sense out of sequence. Nat Genet 21(1 Suppl):56–60

5. Chakravarti A, Kapoor A (2012) Genetics. Mendelian puzzles. Science 335(6071):930–931

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease;Pediatric Surgery International;2024-01-22

2. Research progress, problems, and prospects in the genetic study of Hirschsprung disease;Chinese Science Bulletin;2023-09-01

3. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease;World Journal of Pediatrics;2023-03-01

4. Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis;Frontiers in Pediatrics;2022-10-17

5. Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease’s Patients?;Frontiers in Pediatrics;2022-03-10

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