Cargando…

Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review

De novo germline variants of the casein kinase 2α subunit (CK2α) gene (CSNK2A1) have been reported in individuals with the congenital neuropsychiatric disorder Okur–Chung neurodevelopmental syndrome (OCNS). Here, we report on two unrelated children with OCNS and review the literature to explore the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Ruo-hao, Tang, Wen-ting, Qiu, Kun-yin, Li, Xiao-juan, Tang, Dan-xia, Meng, Zhe, He, Zhan-wen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Systematic Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161887/ https://www.ncbi.nlm.nih.gov/pubmed/34038195 http://dx.doi.org/10.1177/03000605211017063

Ejemplares similares

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
por: Akahira-Azuma, Moe, et al.
Publicado: (2018)

The Okur-Chung Neurodevelopmental Syndrome Mutation CK2(K198R) Leads to a Rewiring of Kinase Specificity
por: Caefer, Danielle M., et al.
Publicado: (2022)

Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?
por: Ballardin, Demetra, et al.
Publicado: (2022)

Structural and Enzymological Evidence for an Altered Substrate Specificity in Okur-Chung Neurodevelopmental Syndrome Mutant CK2α(Lys198Arg)
por: Werner, Christian, et al.
Publicado: (2022)

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
por: Xu, Shanshan, et al.
Publicado: (2020)

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations
por: Zhang, Wen, et al.
Publicado: (2022)

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases
por: Unni, Prasida, et al.
Publicado: (2022)

Sydney Chung
Publicado: (2017)

De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
por: Yang, Qi, et al.
Publicado: (2022)

Chung Un Lee: the trailblazer of tropical medicine in China
por: Liu, Huan, et al.
Publicado: (2022)

PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity
por: Tirado-Class, Neysha, et al.
Publicado: (2022)

Correction: Chung et al. Physiological and Psychological Effects of Treadmill Overtraining Implementation. Biology 2021, 10, 515
por: Chung, Yi, et al.
Publicado: (2023)

Germline de novo variants in CSNK2B in Chinese patients with epilepsy
por: Li, Jinliang, et al.
Publicado: (2019)

Targeting Csnk1a1 in leukemia
por: Stegmaier, Kimberly
Publicado: (2014)

CSNK2 in cancer: pathophysiology and translational applications
por: Strum, Scott W., et al.
Publicado: (2021)

In remembrance: In Hyunk Chung, M.D., Ph.D. (1945–2020)
Publicado: (2020)

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
por: Kampmeier, Antje, et al.
Publicado: (2023)

Two different presentations of de novo variants of CSNK2B: two case reports
por: Wilke, Matheus V. M. B, et al.
Publicado: (2022)

Chung’s swing technique: a new technique for small-incision lenticule extraction
por: Kim, Bu Ki, et al.
Publicado: (2016)

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
por: Robijn, Sybren M. M., et al.
Publicado: (2022)

Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
por: Xu, Lu, et al.
Publicado: (2022)

The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association
por: Shu, Li, et al.
Publicado: (2022)

Relationship between Duffy Genotype/Phenotype and Prevalence of Plasmodium vivax Infection: A Systematic Review
por: Picón-Jaimes, Yelson Alejandro, et al.
Publicado: (2023)

Suppression of lung inflammation by the ethanol extract of Chung-Sang and the possible role of Nrf2
por: Han, Jin-Woo, et al.
Publicado: (2019)

Epidemiological Characteristics of a COVID-19 Outbreak in a Psychiatric Hospital in Chung-buk
por: Jang, Se-Hyuk, et al.
Publicado: (2023)

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
por: Garrity, Madison, et al.
Publicado: (2021)

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
por: Srivastava, Siddharth, et al.
Publicado: (2021)

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
por: Melland, Holly, et al.
Publicado: (2022)

CSNK2A1‐mediated phosphorylation of HMGA2 modulates cisplatin resistance in cervical cancer
por: Shi, Zhan, et al.
Publicado: (2021)

Effects of Chung-Pae Inhalation Therapy on a Mouse Model of Chronic Obstructive Pulmonary Disease
por: Hwang, Joon-Ho, et al.
Publicado: (2015)

Neurodevelopmental Outcomes in Tetralogy of Fallot: A Systematic Review
por: Kordopati-Zilou, Kalliopi, et al.
Publicado: (2022)

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association
por: Zhang, Xi, et al.
Publicado: (2023)

Prognostic value and immunological role of CSNK1D in human cancers
por: Wang, Jianguo, et al.
Publicado: (2023)

CSNK1E/CTNNB1 Are Synthetic Lethal To TP53 in Colorectal Cancer and Are Markers for Prognosis
por: Tiong, Khong-Loon, et al.
Publicado: (2014)

An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes
por: Price, Emma, et al.
Publicado: (2023)

Long noncoding RNA HIKER regulates erythropoiesis in Monge’s disease via CSNK2B
por: Azad, Priti, et al.
Publicado: (2023)

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
por: Nagy, Dóra, et al.
Publicado: (2022)

[Maria Goeppert-Mayer Award to Taiwan-born and raised American physicist Michele Ma Chung-pei]
Publicado: (2003)

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
por: Reijnders, Margot R.F., et al.
Publicado: (2018)

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review
por: Ricciardi, Giacomina, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_qi3op0ipktqair9ib8h5mhma1i