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Background: Age-related neurodegenerative disorders (NDDs) continuum includes late-onset Alzheimer's disease (LOAD), Dementia with Lewy bodies (DLB), and Parkinson's disease (PD) exhibit shared and distinct clinicopathological characteristics. Each of the different NDDs is characterized by a complex genetic etiology and although numerous loci have been identified via GWAS, and the causal genes and the specific neuronal and glial cell subtypes through which they exert their pathogenic effects are yet to be fully elucidated. We aimed to untangle the genetic complexity of NDDs, and to identify shared and distinct biological pathways and disease driver cell-subtypes across NDDs.
View Article and Find Full Text PDFComparative mapping of single-cell transcriptomic landscapes in neurodegenerative diseases.
bioRxiv
December 2024
Division of Translational Brain Sciences, Department of Neurology, Duke University Medical Center, Durham, NC, 27710, USA.
Introduction: Alzheimer's disease (AD), Dementia with Lewy bodies (DLB), and Parkinson's disease (PD) represent a spectrum of neurodegenerative disorders (NDDs). Here, we performed the first direct comparison of their transcriptomic landscapes.
Methods: We profiled the whole transcriptomes of NDD cortical tissue by snRNA-seq.
[Intracranial mesenchymal tumors with FET::CREB fusion: a clinicopathological analysis of six cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the clinicopathological and molecular genetic characteristics of intracranial mesenchymal tumors with FET::CREB fusion transcript. The clinical and imaging data of 6 cases of intracranial mesenchymal tumors with FET::CREB fusion from December 2018 to December 2023 were collected at the First Affiliated Hospital of Zhengzhou University. Their histological features, immunophenotype and molecular characteristics were analyzed.
View Article and Find Full Text PDFFrequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Purpose: Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Methods: Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital.
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant.
Mol Genet Genomic Med
January 2025
Department of General Surgery, The Fourth Affiliated Hospital, China Medical University, Shenyang, Liaoning, China.
Background: Lynch syndrome (LS) is an autosomal-dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees.
Methods: One four-generation Chinese Han family from northeast China with 29 members was enrolled.
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