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Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report.
World Journal of Clinical Cases ( IF 1.1 ) Pub Date : 2021-8-28 , DOI: 10.12998/wjcc.v9.i23.6858
Shuang-Zhu Lin 1 , Xin-Yu Zhou 1 , Wan-Qi Wang 2 , Kai Jiang 1
Affiliation  

Forkhead box protein 1 (FOXP1) (OMIM: 605515) at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression. Earlier studies have suggested that FOXP1, an oncogene, is capable of initiating tumorigenicity depending on the cell type. FOXP1 also plays an important role in regulating the cell development and functions of the immune system, e.g., regulating B-cell maturation and mononuclear phagocyte differentiation, and in the occurrence and development of various immune diseases. The mRNA of this gene is widely expressed in humans, and its differential expression is related to numerous diseases.

中文翻译:

FOXP1 外显子缺失引起的伴有言语障碍的自闭症伴精神发育迟滞:病例报告。

位于染色体区域 3p14.1 的叉头盒蛋白 1 ( FOXP1 ) (OMIM: 605515) 通过调节基因表达在细胞发育和功能中发挥重要的调节作用。早期的研究表明,FOXP1,一种致癌基因,能够根据细胞类型启动致瘤性。FOXP1还在调节免疫系统的细胞发育和功能,调节B细胞成熟和单核吞噬细胞分化,以及各种免疫疾病的发生和发展中发挥重要作用。该基因的mRNA在人类中广泛表达,其差异表达与多种疾病有关。
更新日期:2021-08-28
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