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Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.
Mol Autism
December 2024
Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.
View Article and Find Full Text PDFIntegrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma.
Hum Genomics
December 2024
Department of Stomatology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Background: Oral squamous cell carcinoma (OSCC) is an aggressive malignancy with poor prognosis. Neutrophil infiltration has been associated with unfavorable outcomes in OSCC, but the underlying molecular mechanisms remain unclear.
Methods: This study integrated single-cell transcriptomics (scRNA-seq) with bulk RNA-seq data to analyze neutrophil infiltration patterns in OSCC and identify key gene modules using weighted gene co-expression network analysis (hdWGCNA).
Platelet stimulation-regulated expression of ILK and ITGB3 contributes to intrahepatic cholangiocarcinoma progression through FAK/PI3K/AKT pathway activation.
Cell Mol Life Sci
December 2024
Department of Thoracic Surgery Affiliated Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030, China.
Objective: Intrahepatic cholangiocarcinoma (iCCA) is a highly lethal hepatobiliary malignancy with an increasing incidence annually. Extensive research has elucidated the existence of a reciprocal interaction between platelets and cancer cells, which promotes tumor proliferation and metastasis. This study aims to investigate the function and mechanism underlying iCCA progression driven by the interplay between platelets and tumor cells, aiming to provide novel therapeutic strategies for iCCA.
View Article and Find Full Text PDF[Holliday junction-recognizing protein is a potential predictive and prognostic biomarker for kidney renal clear cell carcinoma].
Nan Fang Yi Ke Da Xue Xue Bao
December 2024
Medical Research and Experimental Center, Yan'an Medical College of Yan'an University, Yan'an 716000, China.
Objectives: To investigate the role of Holliday cross-recognition protein (HJURP) in tumorigenesis, progression, and immunotherapy responses.
Methods: Bioinformatics approaches were used to analyze the expression level of in various cancers and its association with prognosis, clinical stage, and immune cell infiltration using TCGA, GTEx, SangerBox and TIMER 2.0 databases.
Investigation of HOTAIR rs12826786, rs920778 and rs4759314 Variants With Breast Cancer Susceptibility and Clinicopathological Characteristics in a Mexican Population.
Clin Breast Cancer
December 2024
Servicio de Oncología Médica, Unidad Médica de Alta Especialidad, Hospital de Ginecología y Obstetricia. Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Background: Breast cancer (BC) is a multifactorial disease of unknown etiology whose major risk factors are genetic alterations of cell proliferation and migration pathways. HOX transcript antisense RNA gene (HOTAIR) is a long noncoding RNA (lncRNA) related to cell proliferation, progression, invasion, metastasis, and poor survival of multiple cancers, including BC. Controversial results have emerged on the association between breast cancer risk in multiple ethnicities.
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