Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease-Reference-Cited by-同舟云学术

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Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease

Published:2019-10-08 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Wang Hui,Li Qi,Zhang Zhen,Xiao Ping,Li Long,Jiang Qian

Funder

National Natural Science Foundation of China

Beijing Municipal Natural Science Foundation

Beijing Nova Program

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference31 articles.

1. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease;Auricchio;Am. J. Hum. Genet.,1999

2. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease;Basel-Vanagaite;Eur. J. Hum. Genet.,2007

3. Molecular mechanisms of medullary thyroid carcinoma: current approaches in diagnosis and treatment;Boikos;Histol. Histopathol.,2008

4. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus;Bolk;Proc. Natl. Acad. Sci. U. S. A.,2000

5. Hirschsprung's disease as a model of complex genetic etiology;Borrego;Histol. Histopathol.,2013

Cited by 9 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. Recent progress of small-molecule of RET inhibitors against Non-small cell lung cancer;AAPS Open;2024-06-17

2. Discovery of 3,5-diaryl-1H-pyrazol-based ureas as potent RET inhibitors;European Journal of Medicinal Chemistry;2023-05

3. 1-Methyl-3-((4-(quinolin-4-yloxy)phenyl)amino)-1H-pyrazole-4-carboxamide derivatives as new rearranged during Transfection (RET) kinase inhibitors capable of suppressing resistant mutants in solvent-front regions;European Journal of Medicinal Chemistry;2022-12

4. Putative dual inhibitors of mTOR and RET kinase from natural products: Pharmacophore-based hierarchical virtual screening;Journal of Molecular Liquids;2022-03

5. The <i>RET</i> gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and <i>RET</i> mutation results in Hirschsprung's disease;AIMS Neuroscience;2022

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