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2721
Clinical Outcomes and Donor-specific Antibody Rebound 5 y After Kidney Transplant Enabled by Imlifidase Desensitization
Published 2025-02-01“…Dilution studies of sensitized serum enabled the identification of lower AMR risk phenotypes for persisting DSAs. Severe and/or opportunistic infections were not observed at greater than expected frequency. …”
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2722
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
Published 2025-01-01“…Single-nucleotide variants (SNVs) and copy number variants (CNVs) were interpreted based on each patient’s phenotypic presentation. Additionally, data concerning clinical symptoms, neuroimaging findings, treatment responses, and prognostic outcomes were collected and analyzed.ResultsThe overall diagnostic yield was 32.8% (85/259), with a diagnostic yield of 40.0% for exome-based epilepsy panels, 30.1% for CES, and 27.8% for WES. …”
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2723
PMAIP1-mediated glucose metabolism and its impact on the tumor microenvironment in breast cancer: Integration of multi-omics analysis and experimental validation
Published 2025-02-01“…Single-cell analysis was also conducted to explore the role of specific cell clusters in breast cancer, and Bayes deconvolution was used to further investigate the associations between cell clusters and tumor phenotypes of breast cancer. Results: Four significant prognostic genes (PMAIP1, PGK1, SIRT7, and SORBS1) were identified, and, through immune infiltration analysis, a combined prognostic model based on glucose metabolism and immune infiltration was established. …”
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2724
Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics
Published 2025-04-01“…We provide a genomic resource from a phenome-wide application of our models to more than 1,500 phenotypes from the UK Biobank. Using longitudinal, genetically determined expression, we implement a predictive causality framework, evaluating the prediction of future values of a target gene expression using prior values of a putative regulatory gene. …”
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2725
TEAD1‐Mediated Trans‐Differentiation of Vascular Smooth Muscle Cells into Fibroblast‐Like Cells Contributes to the Stabilization and Repair of Disrupted Atherosclerotic Plaques...
Published 2025-02-01“…Central to this process is the modulation of vascular smooth muscle cells (VSMCs) phenotypes, emphasizing their pivotal role in atherosclerotic plaque stability and healing post‐disruption. …”
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2726
Analysis of variability in gestation length in sows and its association with litter traits at birth
Published 2024-11-01“…Meta-analysis revealed that the “general” estimates of the phenotypic correlation coefficient between gestation length and total litter size, the number of live piglets, and total litter weight at birth were significant and negative. …”
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2727
Methodical approaches in experimental modelling of non-alcoholic fatty liver disease
Published 2015-09-01“…Today‘s methods of NAFLD modelling can be divided into two extensive groups: induction of liver disease by genetic mutation, and phenotypic development of NAFLD due to alimentary factor. …”
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2728
Forecasting Range Shifts in Terrestrial Alpine Insects Under Global Warming
Published 2025-01-01“…Alpine insects exhibit some potential to respond to rising temperatures via genetic change or phenotypic plasticity. Thus, future efforts should incorporate biological processes by using flexible hybrid niche modelling approaches to enhance the biological realism of predictions. …”
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2729
Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review
Published 2025-01-01“…Studies evaluating populations with genotypes and phenotypes of ATTR amyloidosis (variant and wild-type cardiomyopathy, polyneuropathy, and mixed) were included. …”
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2730
Serum Matrix Metalloproteinases and Risk of Urologic Cancers: A Bidirectional Mendelian Randomization Study
Published 2025-02-01“…However, the causal relationship between these two phenotypes remains uncertain. This study aims to examine the bidirectional causal relationship between serum MMPs and three urologic cancers: kidney, prostate, and bladder cancer. …”
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2731
Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation
Published 2020-01-01“…Additionally, we compare the patient’s phenotypic findings to those of her offspring, who was also affected by adRP. …”
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2732
Adipose-Derived Stem Cells in Bone Tissue Engineering: Useful Tools with New Applications
Published 2019-01-01“…The use of ASCs has offered significative new advancements in the efficacy of each of these elements. Notably, the phenotypic study of ASCs allowed discovering cell subpopulations, which have enhanced osteogenic and vasculogenic capacity. …”
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2733
Localization of the quantitative trait loci related to lodging resistance in spring bread wheat (<i>Triticum aestivum</i> L.)
Published 2022-11-01“…Here we present the results of localization of the genomic regions associated with resistance to lodging, plant height, and upper internode diameter in Russian bread wheat varieties. Phenotypic screening of 97 spring varieties and breeding lines was carried out in the field conditions of the West Siberian region during 2017–2019. …”
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2734
Online resources on gene networks containing human and animal data
Published 2018-01-01“…Gene networks are molecular genetic systems that ensure the formation of phenotypic characteristics of organisms (molecular, biochemical, structural, morphological, behavioral, etc.) based on information encoded in their genomes. …”
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2735
Idiopathic giant cell myocarditis or cardiac sarcoidosis? A retrospective audit of a nationwide case series
Published 2020-06-01“…The possibility that they represent different phenotypes of a single disease has been debated. Methods and results We made a retrospective audit of 73 cases of GCM diagnosed in Finland since the late 1980s. …”
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2736
Premonitory urge in tic disorders – a scoping review
Published 2025-01-01“…They are highly prevalent, frequently bothersome, and increasingly recognized as a central phenotypic feature in tic disorder populations. This scoping review aimed to systematically consolidate published knowledge and identify knowledge gaps regarding premonitory urges in primary tic disorders.MethodsSearch strategies were deployed in five databases and five topic-relevant journals. …”
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2737
Genetic parameters of production and reproduction traits of Mediterranean buffaloes under tropical conditions
Published 2023-11-01“…For this reason, the zootechnical performance of a herd of Mediterranean buffaloes in Puerto Concha, Zulia state, Ven-ezuela, was evaluated. The phenotypic behavior and genetic parameters of the characteristics of milk yield (MY), lactation length (LL), calving interval (CI), age at first calving (AFC), and peak lactation (PLAC) were analyzed. …”
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2738
Impact of Notch3 Activation on Aortic Aneurysm Development in Marfan Syndrome
Published 2022-01-01“…This might be mediated by inducing a contractile phenotypic change of SMC. Our results suggest that inhibiting Notch3 activation may provide a strategy to prevent and treat aortic aneurysms in MFS.…”
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2739
Maintien du potentiel adaptatif chez les plantes domestiquées à propagation clonale
Published 2012-11-01“…Cloning is the only efficient way to “capture” and multiply initially rare favourable phenotypes in habitually outcrossed plants such as manioc. …”
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2740
An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam
Published 2022-01-01“…Our finding has enriched the understanding of the spectrum of SRD5A2 variants and phenotypic correlation in Asian patients with 46,XY DSD.…”
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