Silencing of human HTT by targeted CRISPR/dCas9-mediated epigenetic editing [0.03%]
基于CRISPR / dCas9的表观遗传编辑介导的人类HTT沉默
Yi Lin Tay,Sarah B Thomson,Silvia Hnatova et al.
Yi Lin Tay et al.
BackgroundGene silencing is widely recognized as a promising therapeutic approach for dominant monogenic disorders. Current silencing strategies, many of which are transient, utilize RNA interference. Gene silencing may also be achieved thr...
Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review [0.03%]
亨廷顿舞蹈病样2型遗传性检测、临床表现和患者体验的系统评价现状
Katharina Hoffmann,Stephanie White,Adrienne Sexton
Katharina Hoffmann
BackgroundHuntington's Disease-like 2 (HDL2) presents complexities in diagnosis due to its similarity to Huntington's Disease (HD). Limited research highlights gaps in knowledge about management and genetic counselling for the condition. HD...
The girl at the end of the world - a reflection on humanitarian and care work in Barranquitas, Venezuela [0.03%]
世界的尽头的女孩——委内瑞拉巴兰基利亚人道主义和护理工作的反思
Alex Fisher
Alex Fisher
This piece recounts the deeply personal journey of the author (Alex) in supporting families affected by Huntington's Disease (HD) in Barranquitas, Venezuela. The author draws a parallel between her childhood fascination with small spaces an...
Molecular diagnosis of Huntington's disease in Trinidadian families via triplet repeat primed PCR, fragment analysis, and nanopore sequencing [0.03%]
特里尼达家庭中亨廷顿舞蹈症的分子诊断：通过三联体重复扩增、片段分析和纳米孔测序进行检测
Shavana Nicole Rajkumar,Chris Gyan,Damion Basdeo et al.
Shavana Nicole Rajkumar et al.
BackgroundHuntington's disease (HD) is a neurodegenerative disorder caused by CAG expansions in the Huntingtin (HTT) gene. Due to its non-specific and variable phenotype, diagnosis requires clinical assessments and genetic testing. In the C...
Multimodal MRI integrating anti-motion multi-parametric mappings for investigating subcortical nuclei microstructural alterations in Huntington's disease [0.03%]
结合抗运动多参数图的多模态磁共振成像技术在亨廷顿病皮层下核团微结构改变中的应用研究
Mengying Zhu,Ming Ye,Zejun Wu et al.
Mengying Zhu et al.
BackgroundHuntington's disease (HD) is a hereditary neurodegenerative disorder, with pathological changes detectable by MRI before symptom onset. Quantitative MRI (qMRI) provides tissue-specific parameters and holds potential for capturing ...
Mouse models to interrogate the developmental pathogenesis of Huntington's disease [0.03%]
用于探究亨廷顿舞蹈病发育发病机制的小鼠模型
Yagiz M Altun,Siyu Yan,Kevin Zheng et al.
Yagiz M Altun et al.
Huntington's disease (HD) has traditionally been viewed as a late-onset neurodegenerative disorder. However, emerging evidence suggests that differences in the stoichiometry of wild-type huntingtin (HTT) and mutant huntingtin (mHTT) exert a...
Assessing the efficacy of dextromethorphan/quinidine in treating irritability in Huntington's disease [0.03%]
评估右美沙芬/奎尼丁治疗亨廷顿病易激惹的有效性
Shayan A Zadegan,Olivia Calderon,Nicholas Karagas et al.
Shayan A Zadegan et al.
BackgroundHuntington's disease (HD) is a neurodegenerative disorder caused characterized by motor, cognitive, and psychiatric/behavioral impairments. Among these symptoms, irritability is particularly burdensome due to its frequency and sig...
Localization of mutant huntingtin with HTT Exon1 P90 C-terminal neoepitope antibodies in relation to regional and neuronal vulnerability in forebrain in Q175 mice and human huntington's disease [0.03%]
Q175小鼠和亨廷顿舞蹈病患者前脑中突变亨廷顿蛋白与HTT第1外显子P90羧基末端 neo表位抗体的定位及其与区域和神经元易感性的关系
Yunping Deng,Marion Joni,Hongbing Wang et al.
Yunping Deng et al.
BackgroundRecent evidence suggests that accumulation of mutant exon 1 protein (HTT1a) may be critical to HD pathogenesis, but the relation of this to differential regional and cellular vulnerability in HD is unknown.ObjectiveWe assessed the...
Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice? [0.03%]
亨廷顿舞蹈症的基因检测：过去、现在与未来。如何利用遗传数据改善临床实践？
Davina J Hensman Moss,Rhiannon Ireland,Guy Chapman et al.
Davina J Hensman Moss et al.
The identification of the repeat expansion which causes Huntington's disease in 1993 soon led to a clinical genetic test for the condition, enabling people at risk to have a test to determine whether they will get the disease. The primary d...
The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review [0.03%]
亨廷顿基因中间等位基因携带者的临床表型：系统评价
Anna van Hofslot,Mayke Oosterloo,Joost J A de Jong et al.
Anna van Hofslot et al.
BackgroundHuntington's Disease (HD) is a hereditary neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion (CAG > 35) in the Huntingtin (HTT) gene. Intermediate alleles (IAs, CAG = 27-35) are generally not as...