Cargando…

Two different presentations of de novo variants of CSNK2B: two case reports

BACKGROUND: Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wilke, Matheus V. M. B, Oliveira, Bibiana M., Pereira, Alessandra, Doriqui, Maria Juliana R., Kok, Fernando, Souza, Carolina F. M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728954/ https://www.ncbi.nlm.nih.gov/pubmed/34983633 http://dx.doi.org/10.1186/s13256-021-03184-8

Ejemplares similares

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

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

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

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
por: Asif, Maria, et al.
Publicado: (2022)

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

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

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

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

Host Kinase CSNK2 is a Target for Inhibition of Pathogenic SARS-like β-Coronaviruses
por: Yang, Xuan, et al.
Publicado: (2022)

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)

De novo transcriptome assembly of two different apricot cultivars
por: Jo, Yeonhwa, et al.
Publicado: (2015)

Csnk1a1 inhibition modulates the inflammatory secretome and enhances response to radiotherapy in glioma
por: Liu, Guanzheng, et al.
Publicado: (2021)

CSNK2B contributes to colorectal cancer cell proliferation by activating the mTOR signaling
por: Yu, Shijun, et al.
Publicado: (2021)

Compartmentalization of casein kinase 1 γ CSNK1G controls the intracellular trafficking of ceramide
por: Goto, Asako, et al.
Publicado: (2022)

De novo transcriptome assembly of two different Prunus mume cultivars
por: Jo, Yeonhwa, et al.
Publicado: (2015)

De novo transcriptome assembly of two different Prunus salicina cultivars
por: Jo, Yeonhwa, et al.
Publicado: (2015)

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

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q)
por: Bello, Erica, et al.
Publicado: (2015)

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

Host kinase CSNK2 is a target for inhibition of pathogenic β-coronaviruses including SARS-CoV-2
por: Yang, Xuan, et al.
Publicado: (2022)

De novo transcriptome assembly of two different peach cultivars grown in Korea
por: Jo, Yeonhwa, et al.
Publicado: (2015)

CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling
por: Matsumoto, Moe, et al.
Publicado: (2023)

Csnk1a1 inhibition has p53-dependent therapeutic efficacy in acute myeloid leukemia
por: Järås, Marcus, et al.
Publicado: (2014)

Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes
por: Yang, Cui-Ping, et al.
Publicado: (2018)

PS162. Genetic role of CSNK1E on circadian and childhood characteristics of the patients with major depressive disorder
por: Joo, Eun-Jeong, et al.
Publicado: (2016)

Fusogenic peptide delivery of bioactive siRNAs targeting CSNK2A1 for treatment of ovarian cancer
por: Samec, Timothy, et al.
Publicado: (2022)

Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review
por: Wu, Ruo-hao, et al.
Publicado: (2021)

Malignant Mesothelioma – Report of Two Cases with Different Presentations
por: Munot, Mahavir N., et al.
Publicado: (2019)

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
por: Ueda, Kimiko, et al.
Publicado: (2021)

circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment
por: Piras, Roberta, et al.
Publicado: (2022)

The impact of DNMT3A variant allele frequency and two different comutations on patients with de novo cytogenetically normal acute myeloid leukemia
por: Chen, Xian, et al.
Publicado: (2023)

Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia
por: Abdel-Mannan, Omar, et al.
Publicado: (2019)

Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing
por: Steensma, Marije J., et al.
Publicado: (2023)

Knockdown of CSNK2ß suppresses MDA-MB231 cell growth, induces apoptosis, inhibits migration and invasion
por: Karna, Shibendra Kumar Lal, et al.
Publicado: (2020)

Identification of a Novel CSNK2A1-PDGFRB Fusion Gene in a Patient with Myeloid Neoplasm with Eosinophilia
por: Xu, Xiaoyu, et al.
Publicado: (2021)

Chemical Genetic Validation of CSNK2 Substrates Using an Inhibitor-Resistant Mutant in Combination with Triple SILAC Quantitative Phosphoproteomics
por: Gyenis, Laszlo, et al.
Publicado: (2022)

CSNK2A1-mediated MAX phosphorylation upregulates HMGB1 and IL-6 expression in cholangiocarcinoma progression
por: Yang, Bing, et al.
Publicado: (2023)

lncSNHG3 drives breast cancer progression by epigenetically increasing CSNK2A1 expression level
por: Nie, Zhenlin, et al.
Publicado: (2023)

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
por: Chong, Shuk Ching, et al.
Publicado: (2020)

CSNK1A1 and Gli2 as Novel Targets Identified Through an Integrative Analysis of Gene Expression Data, Protein-Protein Interaction and Pathways Networks in Glioblastoma Tumors: Can These Two Be Antagonistic Proteins?
por: Mishra, Seema
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_m0aobedgcpa55upvd0bligje60