Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation-Reference-Cited by-同舟云学术

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Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation

Published:2021-08-09 Issue:4 Volume:22 Page:323-332
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Yang Sai,Wu Liwen,Liao Hongmei,Lu Xiulan,Zhang Xiao,Kuang Xiaojun,Yang Liming

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-021-00649-2.pdf

Reference25 articles.

1. Li J, Gao K, Cai S, Liu Y, Wang Y, Huang S, Zha J, Hu W, Yu S, Yang Z, Xie H, Yan H, Wang J, Wu Y, Jiang Y (2019) Germline de novo variants in CSNK2B in Chinese patients with epilepsy. Sci Rep 9(1):17909

2. Bodenbach L, Fauss J, Robitzki A, Krehan A, Lorenz P, Lozeman FJ, Pyerin W (1994) Recombinant human casein kinase II. A study with the complete set of subunits (alpha, alpha’ and beta), site-directed autophosphorylation mutants and a bicistronically expressed holoenzyme. Eur J Biochem 220(1):263–73

3. Gao Y, Wang HY (2006) Casein kinase 2 is activated and essential for Wnt/beta-catenin signaling. J Biol Chem 281:18394–18400

4. Ponce DP, Maturana JL, Cabello P, Yefi R, Niechi I, Silva E, Armisen R, Galindo M, Antonelli M, Tapia JC (2011) Phosphorylation of AKT/PKB by CK2 is necessary for the AKT-dependent up-regulation of β-catenin transcriptional activity. J Cell Physiol 226:1953–1959

5. Shehata M, Schnabl S, Demirtas D, Hilgarth M, Hubmann R, Ponath E, Badrnya S, Lehner C, Hoelbl A, Duechler M, Gaiger A, Zielinski C, Schwarzmeier JD, Jaeger U (2010) Reconstitution of PTEN activity by CK2 inhibitors and interference with the PI3-K/Akt cascade counteract the antiapoptotic effect of human stromal cells in chronic lymphocytic leukemia. Blood 116(14):2513–2521

Cited by 11 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. Genetic analysis and literature review of a Poirier–Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B;Molecular Genetics & Genomic Medicine;2023-11-30

2. Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome;Epilepsy & Behavior;2023-10

3. Casein kinase 2 affects epilepsy by regulating ion channels: a potential mechanism;CNS & Neurological Disorders - Drug Targets;2023-06-22

4. Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature;Frontiers in Pediatrics;2023-03-20

5. Analyzing the interactome of human CK2β in prostate carcinoma cells reveals HSP70 ‐1 and Rho guanin nucleotide exchange factor 12 as novel interaction partners;FASEB BioAdvances;2023-01-22

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