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Page 1
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. Ernst ME, et al. Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26. Epilepsia. 2021. PMID: 34041744 Free PMC article.
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. ...We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by researc …
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. ...We present 25 new pati …
CSNK2B-Related Neurodevelopmental Disorder.
Lippa N, Mulhern M, Ernst Florido M, Earley C, Sands TT. Lippa N, et al. 2024 Sep 5. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Sep 5. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39236211 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD), reported in more than 80 individuals to date, is characterized in most individuals by developmental delay (DD) / intellectual disability (ID) and seizures. ...Once the CSNK2B p …
CLINICAL CHARACTERISTICS: CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD), reported in more than 80 individuals to dat …
CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling.
Matsumoto M, Modliszewski JL, Shinozaki K, Maezawa R, Perez VM, Ishikawa Y, Suzuki R, McKnight KL, Masaki T, Hirai-Yuki A, Kohara M, Lemon SM, Selitsky SR, Yamane D. Matsumoto M, et al. Nucleic Acids Res. 2023 May 22;51(9):4451-4466. doi: 10.1093/nar/gkad298. Nucleic Acids Res. 2023. PMID: 37094077 Free PMC article.
On the other hand, depleting CSNK2B triggered abnormal accumulation of IRF1 at AFAP1 loci, thereby down-regulating transcription of AFAP1, revealing contrary effects of CSNK2B on IRF1 binding at different loci. ...These findings reveal a previously unappreciated mod …
On the other hand, depleting CSNK2B triggered abnormal accumulation of IRF1 at AFAP1 loci, thereby down-regulating transcription of A …
CSNK2B contributes to colorectal cancer cell proliferation by activating the mTOR signaling.
Yu S, Hu Q, Fan K, Yang C, Gao Y. Yu S, et al. J Cell Commun Signal. 2021 Sep;15(3):383-392. doi: 10.1007/s12079-021-00619-1. Epub 2021 Apr 29. J Cell Commun Signal. 2021. PMID: 33928514 Free PMC article.
In the present study, we aimed to explore the expression and biological functions of CSNK2B in CRC. Public gene expression microarray data from online database and immunohistochemistry analysis demonstrated that CSNK2B was highly expressed in CRC tissues than in nor …
In the present study, we aimed to explore the expression and biological functions of CSNK2B in CRC. Public gene expression microarray …
De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.
Yang Q, Zhang Q, Yi S, Qin Z, Shen F, Ou S, Luo J, He S. Yang Q, et al. Front Neurol. 2022 Mar 16;13:811092. doi: 10.3389/fneur.2022.811092. eCollection 2022. Front Neurol. 2022. PMID: 35370893 Free PMC article.
The disease is caused by mutations in the CSNK2B gene, which encodes the beta subunit of casein kinase II, and it has important roles in neuron development and synaptic transmission. ...An abnormal stature may be another common manifestation of CSNK2B deficiency. He …
The disease is caused by mutations in the CSNK2B gene, which encodes the beta subunit of casein kinase II, and it has important roles …
Long noncoding RNA HIKER regulates erythropoiesis in Monge's disease via CSNK2B.
Azad P, Zhou D, Tu HC, Villafuerte FC, Traver D, Rana TM, Haddad GG. Azad P, et al. J Clin Invest. 2023 Jun 1;133(11):e165831. doi: 10.1172/JCI165831. J Clin Invest. 2023. PMID: 37022795 Free PMC article.
Among these lncRNAs is hypoxia induced kinase-mediated erythropoietic regulator (HIKER)/LINC02228, which we showed plays a critical role in erythropoiesis in CMS cells. Under hypoxia, HIKER modulated CSNK2B (the regulatory subunit of casein kinase 2). A downregulation of H …
Among these lncRNAs is hypoxia induced kinase-mediated erythropoietic regulator (HIKER)/LINC02228, which we showed plays a critical role in …
Activating Transcription Factor 6 Mediates Inflammatory Signals in Intestinal Epithelial Cells Upon Endoplasmic Reticulum Stress.
Stengel ST, Fazio A, Lipinski S, Jahn MT, Aden K, Ito G, Wottawa F, Kuiper JWP, Coleman OI, Tran F, Bordoni D, Bernardes JP, Jentzsch M, Luzius A, Bierwirth S, Messner B, Henning A, Welz L, Kakavand N, Falk-Paulsen M, Imm S, Hinrichsen F, Zilbauer M, Schreiber S, Kaser A, Blumberg R, Haller D, Rosenstiel P. Stengel ST, et al. Gastroenterology. 2020 Oct;159(4):1357-1374.e10. doi: 10.1053/j.gastro.2020.06.088. Epub 2020 Jul 13. Gastroenterology. 2020. PMID: 32673694 Free PMC article.
Injection of mice with inhibitors of ACSL1 or CSNK2B significantly reduced tunicamycin-mediated intestinal inflammation and IEC death and expression of CXCL1 and TNF in Atg16l1(deltaIEC) mice. Purified ileal IECs from patients with CD had higher levels of ATF6, CSNK2B …
Injection of mice with inhibitors of ACSL1 or CSNK2B significantly reduced tunicamycin-mediated intestinal inflammation and IEC death …
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Trivisano M, Dominicis A, Stregapede F, Quintavalle C, Micalizzi A, Cappelletti S, Dentici ML, Sinibaldi L, Calabrese C, Terracciano A, Vigevano F, Novelli A, Specchio N. Trivisano M, et al. Epilepsy Behav. 2023 Oct;147:109436. doi: 10.1016/j.yebeh.2023.109436. Epub 2023 Sep 15. Epilepsy Behav. 2023. PMID: 37717460
We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome associated with heterozygous variants of CSNK2B. ...Although all previously reported patients had a de novo CSNK2B pathogenic variant, here we report, for the first time, two familial …
We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome associated with heterozygous variants of CSNK2B. .. …
CSNK2B Mutation: A Rare Cause of IGHD.
Aouchiche K, Romanet P, Barlier A, Brue T, Pertuit M, Reynaud R, Saveanu A. Aouchiche K, et al. Clin Endocrinol (Oxf). 2025 Apr;102(4):421-426. doi: 10.1111/cen.15174. Epub 2024 Dec 15. Clin Endocrinol (Oxf). 2025. PMID: 39676320 Free PMC article.
The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms. ...No C …
The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK …
MicroRNA-1205 Suppresses Hepatocellular Carcinoma Cell Proliferation via a CSNK2B/CDK4 Axis.
Li X, Xie S, Xia Q, Yan J, Chen S, Shen J. Li X, et al. Technol Cancer Res Treat. 2023 Jan-Dec;22:15330338221150544. doi: 10.1177/15330338221150544. Technol Cancer Res Treat. 2023. PMID: 36617978 Free PMC article.
Dual-luciferase assays showed that miR-1205 interacted with CSNK2B by directly targeting the miRNA-binding site in the CSNK2B sequence, and further qPCR analysis indicated that CSNK2B expression was increased in HCC tissues and negatively correlated with miR- …
Dual-luciferase assays showed that miR-1205 interacted with CSNK2B by directly targeting the miRNA-binding site in the CSNK2B …
87 results