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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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Adoptive transfer of personalized neoantigen-reactive TCR-transduced T cells in metastatic colorectal cancer: phase 2 trial interim results
Adoptive cell transfer (ACT) with neoantigen-reactive T lymphocytes can mediate cancer regression. Here we isolated unique, personalized,...
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Lipidome changes due to improved dietary fat quality inform cardiometabolic risk reduction and precision nutrition
Current cardiometabolic disease prevention guidelines recommend increasing dietary unsaturated fat intake while reducing saturated fats. Here we use...
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Benmelstobart, anlotinib and chemotherapy in extensive-stage small-cell lung cancer: a randomized phase 3 trial
Immunochemotherapy is the first-line standard for extensive-stage small-cell lung cancer (ES-SCLC). Combining the regimen with anti-angiogenesis may...
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Precision public health in the era of genomics and big data
Precision public health (PPH) considers the interplay between genetics, lifestyle and the environment to improve disease prevention, diagnosis and...
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Potential of animal-welfare compliant and sustainably sourced serum from pig slaughter blood
The animal product most used as a stimulatory additive for cell cultivation is still fetal bovine serum (FBS). Besides the ethical concerns regarding...
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Clinical Metagenomic Next-Generation Sequencing for Diagnosis of Central Nervous System Infections: Advances and Challenges
Central nervous system (CNS) infections carry a substantial burden of morbidity and mortality worldwide, and accurate and timely diagnosis is...
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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Age at diagnosis (AAD) of Type 1 diabetes (T1D) is determined by the age at onset of the autoimmune attack and by the rate of beta cell destruction...
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Establishment of a trastuzumab-resistant extramammary Paget disease model: loss of PTEN as a potential mechanism
Background/objectivesExtramammary Paget disease (EMPD) is a rare, cutaneous intraepithelial adenocarcinoma typically treated with wide local...
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Deletion of GPR81 activates CREB/Smad7 pathway and alleviates liver fibrosis in mice
BackgroundEnhanced glycolysis is a crucial metabolic event that drives the development of liver fibrosis, but the molecular mechanisms have not been...
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Identification of Immunodominant Epitopes of Dengue Virus 2 Envelope and NS1 Proteins: Evaluating the Diagnostic Potential of a Synthetic Peptide
Background and ObjectiveDengue is a major infectious disease with potential for outbreaks and epidemics. A specific and sensitive diagnosis is a...
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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic...
