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Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.
J Kidney Cancer VHL
December 2024
Department of Urology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Central nervous system hemangioblastoma (CNS-HB) is the most common manifestation of von Hippel-Lindau disease (VHL). The main axis of the CNS-HB pathway is the VHL-HIF signaling pathway. Recently, we proposed an alternative VHL-JAK-STAT pathway in CNS-HB.
View Article and Find Full Text PDFMitochondrial disease and epilepsy in children.
Front Neurol
January 2025
Department of Pediatric Neurology, Children's Medical Center, First Hospital of Jilin University, Changchun, China.
Mitochondria is the cell's powerhouse. Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. This dysfunction can lead to a variety of clinical phenotypes, particularly affecting organs with high energy demands, such as the brain and muscles.
View Article and Find Full Text PDFThe role of lnc‑MAPKAPK5‑AS1 in immune cell infiltration in hepatocellular carcinoma: Bioinformatics analysis and validation.
Oncol Lett
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Guangzhou Center for Disease Control and Prevention, School of Public Health, Guangzhou Medical University, Guangzhou, Guangdong 511436, P.R. China.
The oncogenic and tumor suppressor roles of lnc-MAPKAPK5-AS1 in multiple cancers suggest its complexity in modulating cancer progression. The expression and promoter methylation level of lnc-MAPKAPK5-AS1 in hepatocellular carcinoma (HCC) was investigated through data mining from The Cancer Genome Atlas and Gene Expression Omnibus and its significance in prognosis and immunity was explored. lnc-MAPKAPK5-AS1 was co-expressed with its protein-coding gene MAPKAPK5 in HCC and exhibited upregulation in HCC tissues as a result of hypomethylation of its promoter region.
View Article and Find Full Text PDFClinicopathological Features, Epidermal Growth Factor Receptor (EGFR) Mutations and Anaplastic Lymphoma Kinase (ALK) Rearrangement-Based Survival of Patients With Advanced Non-small Cell Lung Cancer in a Tertiary Care Setting.
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Clinical Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Background Lung cancer is the most frequent cause of cancer-related deaths and the most common type of cancer globally. It is generally classified into two main histologic subtypes: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). NSCLC is the most prevalent type and is enriched with genetic and molecular diversity.
View Article and Find Full Text PDFThe impact of KRAS mutations on the tumour microenvironment and treatment response in non-small cell lung cancer.
Pol J Pathol
January 2025
Department of Pulmonary Medicine, Affiliated Cancer Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.
Mutations in the KRAS gene in non-small cell lung cancer (NSCLC) are common drivers. Gene expression and mutation data of NSCLC were collected from the TCGA dataset. DEGs between KRAS mutations and wild type were identified, and enrichment analysis was performed.
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