Decoding brain arteriovenous malformations: from genetic insights to modeling the vascular maze [0.03%]
脑动静脉畸形的遗传和血管结构解析：从基因研究到血管网络建模
Kang Xie,Ying Wang,Shifu Li et al.
Kang Xie et al.
Brain arteriovenous malformations (bAVMs) are complex cerebrovascular anomalies characterized by a tangle of dysplastic vessels, including feeding arteries, a nidus, and draining veins, with the absence of an intervening capillary bed. bAVM...
Ovarian central nervous system-type tumors: integrated neuropathological and methylation-based classification reveals site-related features [0.03%]
卵巢中枢神经系统性肿瘤：整合神经病理和甲基化分型揭示部位相关特征
Martin Raby,Alexis Trécourt,Euphrasie Servant et al.
Martin Raby et al.
Central nervous system (CNS)-type tumors may occur in the ovary, often associated with a mature teratomatous component. Because of their rarity, little is known about the tumor types historically designated within the primitive neuroectoder...
Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis [0.03%]
靶向整合应激反应或Ataxin-2可缓解C9orf72相关额颞痴呆和肌萎缩侧索硬化症模型中的神经退行性病变
Nikki S Harper,Joanne L Sharpe,Jasmine Speranza et al.
Nikki S Harper et al.
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal, early-onset neurodegenerative diseases. The most common genetic cause of FTD and ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutati...
Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models [0.03%]
以运动神经元病表现为特征的成人期桑德霍夫病：来自患者源性模型的临床和机制见解
Yao Tang,Didi Shan,Hongxu Wang et al.
Yao Tang et al.
Sandhoff disease (SD) is a subtype of GM2 gangliosidosis caused by pathogenic variants in Hexosaminidase B (HEXB). It most frequently presents in infancy or early childhood, whereas adult-onset disease is rare and remains incompletely chara...
Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling [0.03%]
MCUR1双等位基因错义突变与溶酶体肌病和线粒体钙信号异常相关
Anna Maria Haschke,Anja von Renesse,Eugenio Graceffo et al.
Anna Maria Haschke et al.
During muscle contraction, increased influx of calcium from the myocyte cytosol into the mitochondrial matrix through the mitochondrial calcium uniporter (MCU) links calcium homeostasis with high ATP provision. The MCU is located at the inn...
Spatial associations between neuronal membrane damage and vasculature after repetitive diffuse TBI in pigs [0.03%]
重复性弥漫性TBI后猪神经元膜损伤与血管结构之间的空间关联性研究
Kathryn L Wofford,Erin M Purvis Conway,Victor P Acero et al.
Kathryn L Wofford et al.
Closed-head traumatic brain injury (TBI) generally results in diffusely distributed neuropathology. However, factors influencing the micro-scale distribution of this neuropathology remain unknown. Because neurovasculature exhibits different...
TRIM21 autoantibodies are associated with blood-brain barrier dysfunction in a subgroup of neuromyelitis optica spectrum disorder [0.03%]
NMOSD中TRIM21自身抗体与血脑屏障功能障碍的关系
Fumitaka Shimizu,Chihiro Kadono,Masatoshi Yuri et al.
Fumitaka Shimizu et al.
We previously reported that glucose-regulated protein 78 autoantibodies (GRP78 Ab) cause breakdown of the blood-brain barrier (BBB) in neuromyelitis optica spectrum disorder (NMOSD) patients. Objective of the present study is to identify no...
Quantitative BRAF p.V600E mutation monitoring in cerebrospinal fluid cell-free DNA reflects therapeutic response to BRAF/MEK inhibitors in papillary craniopharyngioma: a report of two cases [0.03%]
脑脊液游离DNA中BRAF V600E突变定量监测反映颅咽管瘤对BRAF/MEK抑制剂治疗反应的两例报告
Hirotaka Fudaba,Masayuki Yanagida,Kumpei Takao et al.
Hirotaka Fudaba et al.
Papillary craniopharyngioma (PCP), molecularly defined by the BRAF p.V600E mutation in > 90% of cases, is a highly specific target for BRAF/MEK inhibitor therapy, based on dramatic radiologic responses observed in clinical trials. However, ...
Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets [0.03%]
I型神经纤维瘤病不典型神经纤维瘤的免疫图谱特征分析揭示PD-1和Tim-3/Galectin-9通路是潜在的治疗靶点
Anaïs Brunet,Fanny Coulpier,Audrey Onfroy et al.
Anaïs Brunet et al.
Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes individuals to the development of plexiform neurofibromas (pNF), benign tumors of the nerve sheath that can progress to malignant peripheral nerve sheath tumors (MPNST). ...
Evidence for coordinate CTCF and histone H3.3 activities in K27M diffuse midline gliomas [0.03%]
CTCF和组蛋白H3.3在K27M弥漫内皮中间瘤中协调活动的证据
Rachel H Klein,Jennifer Q Yee,Paul S Knoepfler
Rachel H Klein
Up to 80% of diffuse midline gliomas (DMGs) are characterized by a lysine to methionine driver mutation (K27M) in the tail of histone variant H3.3, pointing to likely roles for epigenetic mechanisms in K27M-driven tumorigenesis. Understandi...