线粒体功能异常还与唐氏综合症的认知损害有关，因此增强线粒体功能可能是另一种有希望的治疗途径。”参考文献：“Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.”编辑：王洪 排版：李丽
哪些基因突变会导致Dyrk1a相关智力障碍综合症(Dyrk1a-Related Intellectual Disability Syndrome) Dyrk1a相关智力障碍综合症是由DYRK1A基因的突变引起的一种遗传性疾病。以下是一些已知的与Dyrk1a相关智力障碍综合症相关的基因突变: 1. DYRK1A基因突变:DYRK1A基因位于21号染色体上,是Dyrk1a相关智力障碍综合症的主要致病基因...
Dyrk1a点突变导致的智力障碍综合症(Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation)基因检测对正确诊断的意义 Dyrk1a点突变是一种罕见的基因突变,与智力障碍综合症相关。进行Dyrk1a点突变的基因检测对正确诊断的意义如下: 1. 确定诊断:基因检测可以确定是否存在Dyrk1a点突变,从而确诊患者是否患有智力...
DYRK1A syndrome results from a reduction in copy number of the DYRK1A gene, which resides on human chromosome 21 (Hsa21). DYRK1A has been implicated in the development of cognitive phenotypes associated with many genetic disorders, including Down syndrome (DS) and Alzheimer's disease (AD). ...
DYRK1A overexpression was found to be responsible for the phenotypic features observed in Down syndrome such as mental retardation, early-onset neurodegenerative, and developmental heart defects. Besides its dual activity in phosphorylation, DYRK1A carries the characteristic of duality in tumorigenesis. ...
DYRK1AXenopusPurpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. Methods: A large database of clinical exome...
DYRK1A的编码基因位于人类21号染色体上唐氏综合症的关键区域(Down Syndrome Critical Region, DSCR),其中患有唐氏综合症以及21号染色体内部扩增(iAMP21)的B系急性淋巴细胞白血病患者的预后较差且复发率较高。目前我们并不完全清楚唐氏综合症患儿...
DYRK1A的编码基因位于人类21号染色体上唐氏综合症的关键区域(Down Syndrome Critical Region, DSCR),其中患有唐氏综合症以及21号染色体内部扩增(iAMP21)的B系急性淋巴细胞白血病患者的预后较差且复发率较高。目前我们并不完全清楚唐氏综合症患儿以及iAMP21患者为什么面临预后较差且复发较高的原因,该研究给上述这一关键问题...
DYRK1A syndrome results from a reduction in copy number of the DYRK1A gene, which resides on human chromosome 21 (Hsa21). DYRK1A has been implicated in the development of cognitive phenotypes associated with many genetic disorders, including Down syndrome (DS) and Alzheimer's disease (AD). Ad...
2 reagents referenced in Down's-syndrome-related kinase Dyrk1A modulates the p120-catenin-Kaiso trajectory of the Wnt signaling pathway.