Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity-Reference-Cited by-同舟云学术

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Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity

Published:2021-05-04 Issue:7 Volume:140 Page:1077-1096
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Dominguez I.,Cruz-Gamero J. M.,Corasolla V.,Dacher N.,Rangasamy S.,Urbani A.,Narayanan V.,Rebholz H.^ORCID

Funder

Csnk2a1 foundation

Rare Disease Foundation

National Institute of General Medical Sciences

CTSA

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02280-5.pdf

Reference76 articles.

1. Ahmed K, Kren BT, Abedin MJ, Vogel RI, Shaughnessy DP, Nacusi L, Korman VL, Li Y, Dehm SM, Zimmerman CL, Niehans GA, Unger GM, Trembley JH (2016) CK2 targeted RNAi therapeutic delivered via malignant cell-directed tenfibgen nanocapsule: dose and molecular mechanisms of response in xenograft prostate tumors. Oncotarget. https://doi.org/10.18632/oncotarget.11442

2. Akahira-Azuma M, Tsurusaki Y, Enomoto Y, Mitsui J, Kurosawa K (2018) Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. Hum Genome Var 5:18011. https://doi.org/10.1038/hgv.2018.11

3. Alcaraz E, Vilardell J, Borgo C, Sarro E, Plana M, Marin O, Pinna LA, Bayascas JR, Meseguer A, Salvi M, Itarte E, Ruzzene M (2020) Effects of CK2beta subunit down-regulation on Akt signalling in HK-2 renal cells. PLoS ONE 15:e0227340. https://doi.org/10.1371/journal.pone.0227340

4. Anders S, Pyl PT, Huber W (2015) HTSeq—a Python framework to work with high-throughput sequencing data. Bioinformatics 31:166–169. https://doi.org/10.1093/bioinformatics/btu638

5. Beyer KS, Klauck SM, Wiemann S, Poustka A (2001) Construction of a physical map of an autism susceptibility region in 7q32.3-q33. Gene 272:85–91. https://doi.org/10.1016/s0378-1119(01)00546-7

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3. Missense mutation in the activation segment of the kinase CK2 models Okur Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse;2024-04-05

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