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- BiologyOpen access
Abstract Sex differences in cancers arising in non-reproductive organs are widespread. While sex hormones and the intrinsic sexual identity of cancer cells are well-established contributors, it is unknown whether other mechanisms are involved. Here, we reveal an unexpected source...
- BiologyOpen access
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1
Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next-generation sequencing (NGS) currently...
- Health & MedicineOpen access
Abstract Background Previous research suggests higher risk of prostate cancer diagnosis in men with high vitamin D serology, but there are limited data related to prostate cancer survival. In this study, we examine the associations between prediagnostic circulating levels of 25-h...
- Health & MedicineOpen access
Abstract Post-treatment HIV controllers (PTC) offer a unique opportunity to uncover the determinants of durable remission after antiretroviral therapy (ART) interruption. Here, using six PTC and six post-treatment non-controllers from the pVISCONTI study in cynomolgus macaques, w...
- Health & MedicineOpen access
Epithelial–mesenchymal transition (EMT), historically described as a binary morphological change from an epithelium to a mesenchymal state, no longer adequately accounts for carcinoma cell phenotypes observed in patients. Single-cell sequencing, spatial-omics, and lineage tracing...
- Health & MedicineOpen access
Cuproptosis: an emerging member of the immunogenic cell death family
Cell death was long considered the terminal consequence of cellular stress or damage, and distinct cell death modalities were classified according to their molecular execution mechanisms rather than their immunological impact [ 1 , 2 ]. This reductionist view has progressively be...
- Health & MedicineOpen access
Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...
- Biology
ABSTRACT Recently, the application of deep learning to structural data deposited in the Protein Data Bank has enabled the reliable and accurate prediction of 3D folded structures of proteins from their sequences. However, this approach is not applicable to highly dynamic proteins...
- BiologyOpen access
ABSTRACT Recently, the application of deep learning to structural data deposited in the Protein Data Bank has enabled the reliable and accurate prediction of 3D folded structures of proteins from their sequences. However, this approach is not applicable to highly dynamic proteins...
- BiologyOpen access
A simple demonstration of a privacy-preserving de-centralised genotype imputation workflow
Abstract Recently, a number of studies have looked at the problem of privacy and data-sharing restrictions in the context of missing genotype imputation servers. This relates to the most typical imputation pipelines which involve a whole-genome sequenced haplotype reference panel...
- Biology
Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease
Abstract Background While pancreatic cysts have been described in syndromic ciliopathies, the pancreas is not commonly recognized as a target organ. However, several ciliary gene knockout mouse models develop a pancreatic phenotype combining acinar atrophy and adipocyte accumulat...
- BiologyOpen access
Impact of chronic doxycycline treatment in a mouse model of tauopathy
Tauopathies are neurodegenerative disorders characterized by the accumulation of hyperphosphorylated tau, leading to synaptic dysfunction, neuroinflammation, and both cognitive and motor impairments. Doxycycline (Doxy), a tetracycline antibiotic commonly used to treat bacterial i...
- Health & MedicineOpen access
Professional Education and Training in Clinical Sexology in Europe
Objectives The aim of this study was to describe characteristics of professional education programs in clinical sexology, including organizers, academic affiliations, target groups, program levels, admission criteria, and jurisdictional recognition of sexology as a profession in...
- Health & Medicine
Therapies for Cardiovascular‐Kidney‐Liver‐Metabolic Syndrome: Reappraisal of Fibrates
ABSTRACT Cardiovascular disease, chronic kidney disease (CKD), type 2 diabetes mellitus (T2DM), obesity and metabolic dysfunction‐associated steatohepatitis (MASH) frequently coexist and share overlapping pathophysiology, forming the proposed cardiovascular‐kidney‐liver‐metabolic...
- Health & MedicineOpen access
Abstract Chikungunya virus (CHIKV) infection is typically not life-threatening but may, in rare cases, affect the central nervous system (CNS). In three cohorts of confirmed CHIKV cases from Martinique (French overseas territory) and Brazil (patients aged 0–89 years, n = 245), 20...
- Health & Medicine
Intraarterial Thrombolysis: Past, Present, Future
Suboptimal clinical outcomes are common after ischemic stroke with large vessel occlusion despite current reperfusion treatment with intravenous thrombolysis and mechanical thrombectomy. Targeting residual distal arterial and microvascular occlusions with intraarterial thrombolys...
- Health & MedicineOpen access
Backgroundand Objectives: Endometrial cancer ranks among the most prevalent gynecologic malignancies in high-income countries, with increasing incidence and mortality driven by the global obesity epidemic. Evidence suggests that women with early-stage disease face a greater risk...
- BiologyOpen access
Abstract Background Metabolic reprogramming is a hallmark of breast cancer (BrCa), with alterations in glycolysis, glutamine metabolism, and the urea cycle contributing to tumour progression. Dichloroacetate (DCA), a pyruvate dehydrogenase kinase (PDK) inhibitor, shifts metabolis...
- AI & ComputingOpen access
Abstract Pathogen-pathogen interactions occur when infection with one pathogen influences one’s chance of infection or disease due to another. Increasingly, evidence suggests that interactions are a common feature of infectious disease epidemiology. However, due to both the nonli...
- Health & MedicineOpen access
According to the French 2022 National guideline, antifibrotic therapy should be initiated as soon as a diagnosis of idiopathic pulmonary fibrosis (IPF) is made, taking into account the individual assessment of the expected benefit and risks of treatment. However, in practice, tre...