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Activation of Hedgehog signaling by the oncogenic RELA fusion reveals a primary cilia-dependent vulnerability in supratentorial ependymoma

Supratentorial RELA fusion (ST-RELA) ependymomas (EPNs) are resistant tumors without an approved chemotherapeutic treatment. Unfortunately, the molecular mechanisms that lead to chemoresistance traits of ST-RELA remain elusive. The aim of this study was to assess RELA fusion-dependent signaling modules, specifically the role of the Hedgehog (Hh) pathway as a novel targetable vulnerability in ST-RELA.

Incidence of NUT carcinoma in Western Australia from 1989 to 2014: a review of pediatric and adolescent cases from Perth Children’s Hospital

NUT carcinoma (NC), previously known as NUT midline carcinoma, is a rare and very aggressive cancer that occurs in both children and adults. NC is largely chemoresistant, with an overall survival of less than 7 months. Because the carcinoma is not restricted to a particular organ, diagnosis is often a challenge. In the absence of a clearly determined incidence for NC, we sought to study the diagnosis of patients in a well-defined population.

Expression of CYP24A1 and other multiple sclerosis risk genes in peripheral blood indicates response to vitamin D in homeostatic and inflammatory conditions

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk.

SCN1A Variants in vaccine-related febrile seizures: A prospective study

Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures

Sun-immune connection

Exposure to ultraviolet radiation damages skin cell DNA but skin cancers develop because ultraviolet radiation also affects the immune system

CD8+XCR1neg Dendritic Cells Express High Levels of Toll-Like Receptor 5 and a Unique Complement of Endocytic Receptors

Our data demonstrate that CD8+XCR1neg DCs possess a unique pattern of endocytic receptors and a restricted TLR profile that is particularly enriched for TLR5

Cellular and molecular mechanisms of vitamin D in food allergy

Epidemiological evidence from the past decade suggests a role of vitamin D in food allergy pathogenesis

PGE2 pulsing of murine bone marrow cells reduces migration of daughter monocytes/macrophages in vitro and in vivo

Our results reveal long-lasting changes to progenitor cells of monocytes/macrophages by a 2-hour dimethyl PGE2 pulse that, in turn, limits the migration of their daughter cells to chemoattractants and inflammatory mediators.

Impairment of motor skills in children with fetal alcohol spectrum disorders in remote Australia: The Lililwan Project

Almost of 10% of children with FASD has significant motor impairment. Evaluation of motor function should routinely be included in assessments for FASD.

Heterogeneity in mechanisms of emergent resistance in pediatric T-cell acute lymphoblastic leukemia

Biological changes associated with T-ALL relapse and resistance are stochastic and highly individual