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A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
View Article and Find Full Text PDFBreaking a barrier: In trans vlsE recombination and genetic manipulation of the native vlsE gene of the Lyme disease pathogen.
PLoS Pathog
January 2025
Department of Veterinary Microbiology and Pathology, Washington State University, Pullman, Washington, United States of America.
Host-pathogen interactions represent a dynamic evolutionary process, wherein both hosts and pathogens continuously develop complex mechanisms to outmaneuver each other. Borrelia burgdorferi, the Lyme disease pathogen, has evolved an intricate antigenic variation mechanism to evade the host immune response, enabling its dissemination, persistence, and pathogenicity. Despite the discovery of this mechanism over two decades ago, the precise processes, genetic elements, and proteins involved in this system remain largely unknown.
View Article and Find Full Text PDFAbdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.
Medicine (Baltimore)
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Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.
Medicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
View Article and Find Full Text PDFA novel necroptosis-related gene signature predicts the prognosis and immunotherapeutic response in breast cancer through immune infiltration.
Discov Oncol
January 2025
Department of Breast, Foshan Fosun Chancheng Hospital, Foshan, Guangdong Province, China.
Growing evidence has demonstrated the association between necroptosis and tumorigenesis and immunotherapy. However, the influence of overall necroptosis related genes on prognosis and immune microenvironment of breast cancer is still unclear. In this study, We systematically analyzed the necroptosis related gene patterns and tumor microenvironment characteristics of 1294 breast cancer patients by clustering the gene expression of 22 necroptosis related genes.
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