Differences and overlaps in TDP-43 pathology of 'pure' LATE-NC compared to LATE-NC coexisting with Alzheimer's disease [0.03%]
单纯LATE-NC与合并阿尔茨海默病的LATE-NC中TDP-43病理差异及重叠点分析
Sandra O Tomé,Klara Gawor,Simona Ospitalieri et al.
Sandra O Tomé et al.
Limbic-predominant age-related TDP-43 encephalopathy (LATE) is a common substrate of dementia in the elderly. LATE and Alzheimer's disease (AD) share similar clinical features, and their underlying neuropathological changes-LATE-NC and ADNC...
Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors [0.03%]
胶质瘤和胶神经肿瘤患者的遗传变异特征分析
Subhiksha Nandakumar,Miika Mehine,Yelena Kemel et al.
Subhiksha Nandakumar et al.
Several tumor predisposition syndromes have been linked to the development of gliomas and glioneuronal tumors (glioma/GNT). For many pathogenic germline variants, the prevalence and clinical significance remain unclear. Germline variants an...
Pineal region high-grade neuroepithelial tumors with NTRK fusions map to the novel methylation class "diffuse high-grade glioma, IDH-wild type, subtype E" [0.03%]
具有NTRK融合的松果体区高级神经上皮肿瘤归为新型甲基化类别“弥散性高级别胶质瘤，IDH野生型，E亚型”
Felipe D&#x;Almeida Costa,João Víctor Alves de Castro,Yuri Merlotti Gomes et al.
Felipe D&#x;Almeida Costa et al.
Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease [0.03%]
唐氏综合症和早老素2变异体：阿尔茨海默病的双重遗传易感性
Jordan Ogg,Nadia Postupna,Laura E Gibbons et al.
Jordan Ogg et al.
Early onset familial Alzheimer's disease (EOFAD) is rare compared to sporadic AD, but dominant variants in genes involved in amyloid β (Aβ) processing are well-described. One such variant is in the presenilin 2 (PSEN2) gene, N141I, and wa...
TDP-43 dysregulation impairs cholesterol metabolism linked with myelination defects [0.03%]
TDP-43调控异常会干扰与髓鞘缺陷相关的胆固醇代谢
Irene García-Toledo,Juan M Godoy-Corchuelo,Luis C Fernández-Beltrán et al.
Irene García-Toledo et al.
TDP-43 is a nuclear protein encoded by the TARDBP gene, which forms pathological aggregates in various neurodegenerative diseases, collectively known as TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotempora...
Rare FN1 missense mutations indicate a protective role against Lewy body dementia in APOEε4 homozygous carriers [0.03%]
罕见的FN1错义突变表明其能对抗APOEε4纯合子携带者的路易体痴呆发病作用
Paolo Reho,Anindita Ray,Karri Kaivola;International L. B. D. Genomics Consortium;Badri N Vardarajan et al.
Paolo Reho et al.
DNA methylation analysis reveals an epigenetic signature distinctive of high-grade oligodendroglioma [0.03%]
DNA甲基化分析揭示了高度弥漫性星形细胞瘤独特的表观遗传特征
Katharina Johanna Weber,Mareike Dettki,Marco Münzberg et al.
Katharina Johanna Weber et al.
IDH-mutant gliomas represent a subtype of diffuse gliomas that primarily affect patients in early to mid-adolescence. These tumors are classified into three distinct CNS WHO grades of malignancy. Accurate grading is essential for selecting ...
EGFR alteration is an adverse prognostic factor in IDH-mutant astrocytoma [0.03%]
IDH突变型胶质瘤中EGFR改变是一个不利的预后因素
Cheyanne C Slocum,Phuong Nguyen,Meenakshi Vij et al.
Cheyanne C Slocum et al.
Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology [0.03%]
DNAJC7双等位基因变异引起携带TDP-43病理的家族性肌萎缩侧索硬化症
Toru Yamashita,Osamu Yokota,Daiki Ousaka et al.
Toru Yamashita et al.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive degeneration of motor neurons. ALS pathology primarily involves the failure of protein quality control mechanisms, leading to the acc...