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Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
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Differential Sensitivity of Human Hepatocellular Carcinoma Xenografts to an IGF-II Neutralizing Antibody May Involve Activated STAT3These findings implicate the activation of STAT3 as one pathway that may mediate resistance to IGF-II-targeted therapy in HCC
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Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal PopulationOur goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
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PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumoursOur findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.
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Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironmentOur results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained
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Tissue-resident memory CD8+ T cells promote melanoma–immune equilibrium in skinOur results show that TRM cells have a fundamental role in the surveillance of subclinical melanomas in the skin by maintaining cancer-immune equilibrium
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Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
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Mixed Proteasomes Function To Increase Viral Peptide Diversity and Broaden Antiviral CD8+ T Cell ResponsesMany proteasomes expressed by normal cells and cells exposed to cytokines are "mixed", that is, contain both standard and immunoproteasome subunits.
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Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational ageWe identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues
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Asymptomatic CMV infections in long-term renal transplant recipients are associated with the loss of FcRγ from LIR-1+ NK cellsCMV can be reactivated in symptom-free renal transplant recipients, affecting the phenotypic, and functional profiles of NK cells
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Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificityOur result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner
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Potential predictive value of CD8A and PGF protein expression in gastric cancer patients treated with neoadjuvant immunotherapyImmunoneoadjuvant therapy has gained significant attention due to its remarkable advancements in cancer treatment. This study aimed to investigate the molecular mechanisms underlying immunoneoadjuvant therapy through a comprehensive multiomics analysis of samples from a registered clinical trial cohort.
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CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSsCAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
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A surgically optimized intraoperative poly(I:C)-releasing hydrogel prevents cancer recurrenceRecurrences frequently occur following surgical removal of primary tumors. In many cancers, adjuvant therapies have limited efficacy. Surgery provides access to the tumor microenvironment, creating an opportunity for local therapy, in particular immunotherapy, which can induce local and systemic anti-cancer effects.
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Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
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The health-related quality of life of lung cancer patients with EGFR-The Kids-related skin adverse drug reactions and its relationship with coping style and self-managementThe status and associated factors of the health-related quality of life of non-small-cell lung cancer patients under targeted anti-cancer therapy have not been investigated. Self-management and coping style have been proven to be closely related to patients’ health-related quality of life.
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An unbiased exploration of the human regulatory landscapeWe are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu
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A tipping point in cancer-immune dynamics leads to divergent immunotherapy responses and hampers biomarker discoveryPredicting treatment response or survival of cancer patients remains challenging in immuno-oncology. Efforts to overcome these challenges focus, among others, on the discovery of new biomarkers. Despite advances in cellular and molecular approaches, only a limited number of candidate biomarkers eventually enter clinical practice.
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Mining single-cell data for cell type-disease associationsA robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and
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A Pre-Clinical Assessment of the Pan-ERBB Inhibitor Dacomitinib in Pediatric and Adult Brain TumorsGlioblastoma in adults, and medulloblastoma and pineoblastoma that mainly affect children, are aggressive brain tumors.