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29,487 Result(s)
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Open AccessLarge-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults
The genetic contribution of protein-coding variants to immune-mediated diseases (IMDs) remains underexplored. Through whole exome sequencing of 40 IMDs in 350,770 UK Biobank participants, we identified 162 uni...
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Open AccessPrenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center
To evaluate the genetic etiology of fetal dextrocardia, associated ultrasound anomalies, and perinatal outcomes, we investigated the utility of whole exome sequencing (WES) for prenatal diagnosis of dextrocard...
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Open AccessThe impact of tertiary lymphoid structures on tumor prognosis and the immune microenvironment in non-small cell lung cancer
Non-small cell lung cancer (NSCLC) is a common malignancy whose prognosis and treatment outcome are influenced by many factors. Some studies have found that tertiary lymphoid structures (TLSs) in cancer may co...
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Open AccessDiscovery of a terpene synthase synthesizing a nearly non-flexible eunicellane reveals the basis of flexibility
Eunicellane diterpenoids, containing a typical 6,10-bicycle, are bioactive compounds widely present in marine corals, but rarely found in bacteria and plants. The intrinsic macrocycle exhibits innate structura...
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Open AccessAssociation between the serum uric acid/serum creatinine ratio and cognitive function in older adults: NHANES in the United States
Cognitive impairment can potentially become a significant health concern in older adults. However, early effective diagnostic methods are still lacking. Therefore, we utilized the NHANES database in the US to ...
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Open AccessPrecision reduction of femoral neck fractures: a novel strategy based on the femoral neck fracture morphology
In femoral neck fractures the secondary damage caused by repeated multiple reductions needs to be prevented. Accordingly, the aim of this study was to achieve an anatomical reduction in the first manipulation ...
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Open AccessPrevalence and trends in overactive bladder among men in the United States, 2005–2020
The purpose of present study was to examine the current prevalence and recent trends of overactive bladder (OAB) among US adult men and examine the correlations between OAB and several potential risk factors. ...
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Open AccessAdherence and persistence to tafamidis treatment among Medicare beneficiaries in the presence of a patient assistance program
Tafamidis is the only disease-modifying therapy approved to treat patients in the United States with transthyretin amyloid cardiomyopathy (ATTR-CM), which most commonly affects patients aged ≥ 65 years. The ma...
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Open AccessLarge-scale 2D heterostructures from hydrogen-bonded organic frameworks and graphene with distinct Dirac and flat bands
The current strategies for building 2D organic-inorganic heterojunctions involve mostly wet-chemistry processes or exfoliation and transfer, leading to interface contaminations, poor crystallizing, or limited ...
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Open AccessAI-NERD: Elucidation of relaxation dynamics beyond equilibrium through AI-informed X-ray photon correlation spectroscopy
Understanding and interpreting dynamics of functional materials in situ is a grand challenge in physics and materials science due to the difficulty of experimentally probing materials at varied length and time...
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Open AccessSustained North Atlantic warming drove anomalously intense MIS 11c interglacial
The Marine Isotope Stage (MIS) 11c interglacial and its preceding glacial termination represent an enigmatically intense climate response to relatively weak insolation forcing. So far, a lack of radiometric ag...
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Open AccessGenomic and single-cell analyses reveal genetic signatures of swimming pattern and diapause strategy in jellyfish
Jellyfish exhibit innovative swimming patterns that contribute to exploring the origins of animal locomotion. However, the genetic and cellular basis of these patterns remains unclear. Herein, we generated chr...
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Open AccessIntegrating plasma proteomics with genome-wide association data to identify novel drug targets for inflammatory bowel disease
Inflammatory bowel disease (IBD) is a chronic disease that includes Crohn’s disease (CD) and ulcerative colitis (UC). Although genome-wide association studies (GWASs) have identified many relevant genetic risk...
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Open AccessRecommendations for managing adult acne and adolescent acne based on an epidemiological study conducted in China
There are numerous differences between adult acne and adolescent acne in terms of causes, distribution, and characteristics of skin lesions, as well as treatment. This paper aims to summarize the differences b...
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Open AccessLegionella maintains host cell ubiquitin homeostasis by effectors with unique catalytic mechanisms
The intracellular bacterial pathogen Legionella pneumophila modulates host cell functions by secreting multiple effectors with diverse biochemical activities. In particular, effectors of the SidE family interfere...
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Open AccessOverview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan
This retrospective study investigated the incidence, medication use, and outcomes in pediatric autosomal-dominant polycystic kidney disease (ADPKD) using Taiwan's National Health Insurance Research Database (N...
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Open AccessLARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis
Human telomerase assembly is a highly dynamic process. Using biochemical approaches, we find that LARP3 and LARP7/MePCE are involved in the early stage of human telomerase RNA (hTR) and that their binding to R...
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Open AccessI/O-efficient iterative matrix inversion with photonic integrated circuits
Photonic integrated circuits have been extensively explored for optical processing with the aim of breaking the speed and energy efficiency bottlenecks of digital electronics. However, the input/output (IO) bo...
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Open AccessAdenine base editing-mediated exon skip** restores dystrophin in humanized Duchenne mouse model
Duchenne muscular dystrophy (DMD) affecting 1 in 3500–5000 live male newborns is the frequently fatal genetic disease resulted from various mutations in DMD gene encoding dystrophin protein. About 70% of DMD-caus...
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Open AccessMetagenomic insights into microbial community structure and metabolism in alpine permafrost on the Tibetan Plateau
Permafrost, characterized by its frozen soil, serves as a unique habitat for diverse microorganisms. Understanding these microbial communities is crucial for predicting the response of permafrost ecosystems to...