Tribute to Dr. William L. Pak [0.03%]
纪念百里流教授
Hiroyuki Matsumoto
Hiroyuki Matsumoto
Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder [0.03%]
HERC2基因的新变异在智力发育障碍患者中的鉴定及生物信息学分析
Asal Asghari Sarfaraz,Neda Jabbarpour,Mortaza Bonyadi et al.
Asal Asghari Sarfaraz et al.
HERC2-associated neurodevelopmental-disorders(NDD) encompass a cluster of medical conditions that arise from genetic mutations occurring within the HERC2 gene. These disorders can manifest a spectrum of symptoms that impact the brain and ne...
Meta-analysis of the association between C9orf72 repeats and neurodegeneration diseases [0.03%]
C9orf72重复与神经退行性疾病相关性的 meta 分析研究进展
Pingfei Jin,Yong Li,Yao Li
Pingfei Jin
To conduct a meta-analysis investigating the relationship between the chromosome 9 open reading frame 72 (C9orf72) GGGGCC (G4C2) and neurodegenerative diseases (NDs), including Alzheimer's disease (AD), Parkinson's disease (PD), multiple sy...
Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis [0.03%]
近20年罕见病领域从头突变研究进展的全球知识图谱(基于文献计量学分析)
Jing Guan,Xiaonan Wu,Jiao Zhang et al.
Jing Guan et al.
As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publi...
Robert Lalonde,Catherine Strazielle
Robert Lalonde
DST is a gene whose alternative splicing yields epithelial, neuronal, and muscular isoforms. The autosomal recessive Dstdt (dystonia musculorum) spontaneous mouse mutation causes degeneration of spinocerebellar tracts as well as peripheral ...
Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes [0.03%]
涉及TTPA和SETX基因的近亲家庭内的遗传异质性
Cyrine Jeridi,Amine Rachdi,Fatma Nabli et al.
Cyrine Jeridi et al.
Autosomal recessive cerebellar ataxias (ARCA) constitute a highly heterogeneous group of progressive neurodegenerative disorders that typically occur prior to adulthood. Despite some clinical resemblance between these disorders, different g...
Yin Yang 1 suppresses apoptosis and oxidative stress injury in SH-SY5Y cells by facilitating NR4A1 expression [0.03%]
Yin Yang 1通过促进NR4A1表达来抑制SH-SY5Y细胞凋亡和氧化应激损伤
Qin Kang,Wen Chai,Jun Min et al.
Qin Kang et al.
Oxidative stress plays a significant role in the development of Parkinson's disease (PD). Previous studies implicate nuclear receptor subfamily 4 group A member 1 (NR4A1) in oxidative stress associated with PD. However, the molecular mechan...
Neural stem cell-derived exosomal FTO protects neuron from microglial inflammatory injury by inhibiting microglia NRF2 mRNA m6A modification [0.03%]
神经源性外泌体FTO通过抑制小胶质细胞NRF2 mRNA的m6A修饰保护神经元免受炎症损伤
Zhiyong Li,Zhenggang Chen,Jun Peng
Zhiyong Li
Ischemic stroke (IS) can cause neuronal cell loss and function defects. Exosomes derived from neural stem cells (NSC-Exos) improve neural plasticity and promote neural function repair following IS. However, the potential mechanism remains u...
Jing W Wang,Greg S B Suh,Chun-Fang Wu
Jing W Wang