201 related articles for article (PubMed ID: 35445078)
1. Structural and Enzymological Evidence for an Altered Substrate Specificity in Okur-Chung Neurodevelopmental Syndrome Mutant CK2α
Werner C; Gast A; Lindenblatt D; Nickelsen A; Niefind K; Jose J; Hochscherf J
Front Mol Biosci; 2022; 9():831693. PubMed ID: 35445078
[TBL] [Abstract][Full Text] [Related]
2. Predictive functional, statistical and structural analysis of
Unni P; Friend J; Weinberg J; Okur V; Hochscherf J; Dominguez I
Front Mol Biosci; 2022; 9():851547. PubMed ID: 36310603
[TBL] [Abstract][Full Text] [Related]
3. The Okur-Chung Neurodevelopmental Syndrome Mutation CK2
Caefer DM; Phan NQ; Liddle JC; Balsbaugh JL; O'Shea JP; Tzingounis AV; Schwartz D
Front Mol Biosci; 2022; 9():850661. PubMed ID: 35517865
[TBL] [Abstract][Full Text] [Related]
4. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
Dominguez I; Cruz-Gamero JM; Corasolla V; Dacher N; Rangasamy S; Urbani A; Narayanan V; Rebholz H
Hum Genet; 2021 Jul; 140(7):1077-1096. PubMed ID: 33944995
[TBL] [Abstract][Full Text] [Related]
5. Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Blanc A; Bonnet C; Wandzel M; Roth V; Duffourd Y; Safraou H; Leheup B; Muller F; D Colne J; Feillet F; Schmitt E; Castro M; Savatt J; Burcheri A; Nemos C; Philippe C; Lambert L
Am J Med Genet A; 2024 May; ():e63642. PubMed ID: 38711237
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel
Wu RH; Tang WT; Qiu KY; Li XJ; Tang DX; Meng Z; He ZW
J Int Med Res; 2021 May; 49(5):3000605211017063. PubMed ID: 34038195
[No Abstract] [Full Text] [Related]
7. Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Jafari Khamirani H; Zoghi S; Motealleh A; Dianatpour M; Tabei SMB; Mohammadi S; Dastgheib SA
Mol Syndromol; 2022 Dec; 13(5):381-388. PubMed ID: 36588763
[TBL] [Abstract][Full Text] [Related]
8. Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?
Ballardin D; Cruz-Gamero JM; Bienvenu T; Rebholz H
Front Mol Biosci; 2022; 9():850559. PubMed ID: 35693553
[TBL] [Abstract][Full Text] [Related]
9. Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Nan H; Chu M; Zhang J; Jiang D; Wang Y; Wu L
Mol Genet Genomic Med; 2024 Mar; 12(3):e2398. PubMed ID: 38444259
[TBL] [Abstract][Full Text] [Related]
10. Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.
Xu S; Lian Q; Wu J; Li L; Song J
BMC Med Genet; 2020 Aug; 21(1):158. PubMed ID: 32746809
[TBL] [Abstract][Full Text] [Related]
11. A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the
Zhuri D; Dusenkalkan F; Tunca Alparslan G; Gurkan H
Mol Syndromol; 2024 Feb; 15(1):43-50. PubMed ID: 38357263
[TBL] [Abstract][Full Text] [Related]
12. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
Duan HL; Peng J; Pang N; Chen SM; Xiong J; Guang SQ; Yin F
Zhonghua Er Ke Za Zhi; 2019 May; 57(5):368-372. PubMed ID: 31060130
[No Abstract] [Full Text] [Related]
13. Crystal structure of a C-terminal deletion mutant of human protein kinase CK2 catalytic subunit.
Ermakova I; Boldyreff B; Issinger OG; Niefind K
J Mol Biol; 2003 Jul; 330(5):925-34. PubMed ID: 12860116
[TBL] [Abstract][Full Text] [Related]
14. Structure of the human protein kinase CK2 catalytic subunit CK2α' and interaction thermodynamics with the regulatory subunit CK2β.
Bischoff N; Olsen B; Raaf J; Bretner M; Issinger OG; Niefind K
J Mol Biol; 2011 Mar; 407(1):1-12. PubMed ID: 21241709
[TBL] [Abstract][Full Text] [Related]
15. Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Owen CI; Bowden R; Parker MJ; Patterson J; Patterson J; Price S; Sarkar A; Castle B; Deshpande C; Splitt M; Ghali N; Dean J; Green AJ; Crosby C; ; Tatton-Brown K
Am J Med Genet A; 2018 May; 176(5):1108-1114. PubMed ID: 29383814
[TBL] [Abstract][Full Text] [Related]
16. The interaction of CK2alpha and CK2beta, the subunits of protein kinase CK2, requires CK2beta in a preformed conformation and is enthalpically driven.
Raaf J; Brunstein E; Issinger OG; Niefind K
Protein Sci; 2008 Dec; 17(12):2180-6. PubMed ID: 18824508
[TBL] [Abstract][Full Text] [Related]
17. A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
Loukil A; Barrington C; Goetz SC
Proc Natl Acad Sci U S A; 2021 Apr; 118(16):. PubMed ID: 33846249
[TBL] [Abstract][Full Text] [Related]
18. Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N; Price-Smith A; Ramsey K; Leka K; Abraham A; Lieberman E; Hassett K; Potu S; Rudy N; Smith K; Mikhail FM; Monaghan KG; Hendershot A; Mourmans J; Descartes M; Huentelman MJ; Sills J; Rangasamy S; Narayanan V
Clin Genet; 2023 Nov; 104(5):607-609. PubMed ID: 37491870
[TBL] [Abstract][Full Text] [Related]
19. [Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].
Wu R; Tang W; Liang L; Li X; Ouyang N; Meng Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun; 37(6):641-644. PubMed ID: 32472542
[TBL] [Abstract][Full Text] [Related]
20. Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Murakami H; Uehara T; Enomoto Y; Nishimura N; Kumaki T; Kuroda Y; Asano M; Aida N; Kosaki K; Kurosawa K
Mol Syndromol; 2022 Feb; 13(1):75-79. PubMed ID: 35221879
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
