2024年12月25日 · SOX5 (SRY-Box Transcription Factor 5) is a Protein Coding gene. Diseases associated with SOX5 include Lamb-Shaffer Syndrome and Large Congenital Melanocytic Nevus. Among its related pathways are Endochondral ossification …

2023年10月24日 · 中国科学院动物研究所研究员刘光慧及合作者，在国际上率先利用体细胞重编程（somatic reprogramming）技术，在衰老程度高、速度快的人类儿童早衰症（Hutchinson Gilford progeria syndrome，HGPS）成纤维细胞中导入四个 Yamanaka重编程因子 OSKM（Oct4、Sox2、Klf4、c-Myc），实现了衰老细胞表观基因组重塑，逆转了人类细胞的衰老时钟。 该研究衍生了后续一系列通过部分重编程（partial reprogramming）技术进行衰老干预的探索，并在啮 …

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene. [5][6] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate.

Short-SOX5 regulates transcription of human SPAG16L gene via directly binding to the promoter of SPAG16L. Collectively, these findings indicate that SOX5 is a novel candidate gene for Alzheimer's disease (AD) with an important role in neuronal function.

该基因编码参与胚胎发育调控和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族成员。 编码的蛋白质在与其他蛋白质形成蛋白质复合物后可以充当转录调节剂。 编码的蛋白质可能在软骨形成中发挥作用。 该基因的假基因位于 8 号染色体上。 已为该基因鉴定出编码不同亚型的多个转录变体。 [RefSeq 提供，2008 年 7 月]

2023年3月3日 · We report 16 SOX5 variants all of which meet American College of Medical Genetics/Association for Clinical Genomic Science ACMG/ACGS criteria class IV or V. 7/16 have intragenic deletions of SOX5 and 9/16 have single nucleotide variants (including both truncating and missense variants).

2017年6月6日 · SOX5 overexpression reverses the expression perturbations observed in a mouse model of T2D, increases the expression of key β-cell genes and improves glucose-stimulated insulin secretion in...

2008年1月24日 · Sox5 is expressed at high levels in developing CFu neurons and is excluded from CPN of layer V and superficial layers. We find that SOX5 controls the sequence and pace of generation of the different subtypes of corticofugal neurons during corticogenesis, leading to a model of progressive withdrawal of SOX5 repression over coordinately regulated ...

2016年8月19日 · Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Identification of the SOX5 gene as a novel IGH-involved translocation partner in BCL2-negative follicular lymphoma with t …

2010年3月1日 · Sox5 recruits CtBP2 and HDAC1 and binds to the regulatory regions of Sox10 target genes, thereby directly inhibiting Sox10 activity. Sox5 also ensures proper development of specific neuronal cell types by controlling the timing of critical cell fate and differentiation decisions (Kwan et al., 2008, Lai et al., 2008).