Редактирование: EWSR1 (раздел)

==Publications==

{{medline-entry
|title=[[EWSR1]], a multifunctional protein, regulates cellular function and aging via genetic and epigenetic pathways.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/30481590
|abstract=Ewing's sarcoma (EWS) is a bone cancer arising predominantly in young children. [[EWSR1]] (Ewing Sarcoma breakpoint region 1/EWS RNA binding protein 1) gene is ubiquitously expressed in most cell types, indicating it has diverse roles in various cellular processes and organ development. Recently, several studies have shown that missense mutations of [[EWSR1]] genes are known to be associated with central nervous system disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Otherwise, [[EWSR1]] plays epigenetic roles in gene expression, RNA processing, and cellular signal transduction. Interestingly, [[EWSR1]] controls micro RNA (miRNA) levels via Drosha, leading to autophagy dysfunction and impaired dermal development. Ewsr1 deficiency also leads to premature senescence of blood cells and gamete cells with a high rate of apoptosis due to the abnormal meiosis. Despite these roles of [[EWSR1]] in various cellular functions, the exact mechanisms are not yet understood. In this context, the current review overviews a large body of evidence and discusses on what [[EWSR1]] genetic mutations are associated with brain diseases and on how [[EWSR1]] modulates cellular function via the epigenetic pathway. This will provide a better understanding of bona fide roles of [[EWSR1]] in aging and its association with brain disorders.
|mesh-terms=* Aging
* Animals
* Autophagy
* Brain Diseases
* Epigenesis, Genetic
* Humans
* MicroRNAs
* Mutation
* RNA-Binding Protein EWS
|keywords=* Autophagy
* Brain disorders
* EWSR1
* Epigenetic function
* Genetic mutation
* miRNA
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527469
}}
{{medline-entry
|title=[[EWSR1]]/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27627705
|abstract=The Ewing sarcoma breakpoint region 1 ([[EWSR1]]) gene is known to fuse with various partner genes to promote the development of the Ewing sarcoma family of tumors and other sarcomas. In contrast, the association of [[EWSR1]] chimeric fusion genes with leukemia has rarely been reported. We identified a novel [[EWSR1]]-associated chimeric fusion gene in a patient with acute myeloid leukemia harboring 46, XY, t (11; 22) (p13; q12) karyotype abnormality. The patient was refractory to intensified chemotherapy including hematopoietic stem cell transplantation. Total RNA paired-end sequencing identified a novel chimeric fusion gene as [[EWSR1]]/ELF5, a member of the E26 transformation-specific transcription factor family. Transduction of [[EWSR1]]/ELF5 to NIH3T3 cells induced transformation by attenuating with the p53/p21-dependent pathway. The injection of [[EWSR1]]/ELF5-transduced NIH3T3 cells into NSG-SCID mice systematically induced the development of tumors in vivo. These results revealed the oncogenic potency of [[EWSR1]]/ELF5.
|mesh-terms=* Animals
* Calmodulin-Binding Proteins
* Cell Line, Transformed
* Cell Line, Tumor
* Cell Transformation, Neoplastic
* Child, Preschool
* Chromosome Banding
* DNA-Binding Proteins
* Disease Models, Animal
* Female
* Gene Expression
* Gene Expression Profiling
* Humans
* In Situ Hybridization, Fluorescence
* Leukemia, Myeloid, Acute
* Male
* Mice
* Mutation
* NIH 3T3 Cells
* Oncogene Proteins, Fusion
* Proto-Oncogene Proteins c-ets
* Proto-Oncogene Proteins p21(ras)
* RNA-Binding Protein EWS
* RNA-Binding Proteins
* Signal Transduction
* Transcription Factors
* Transcriptome
* Tumor Suppressor Protein p53
|keywords=* Acute myelogenous leukemia
* ELF5
* EWSR1
* TP53
* senescence
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198945
}}