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2901
What have we learnt from histology about the efficacy of coronary imaging modalities in assessing plaque composition?
Published 2025-01-01“…This review aims to provide a comprehensive evaluation of the performance of intravascular imaging in characterizing plaque phenotypes using histology as a reference standard; it summarizes the studies comparing the available invasive imaging techniques against histology, discusses the findings and limitations of these studies and highlights the potential of novel intravascular imaging approaches that were introduced for a more complete and comprehensive evaluation of plaque pathobiology.…”
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2902
Alternative 3′ UTR polyadenylation is disrupted in the rNLS8 mouse model of ALS/FTLD
Published 2025-01-01“…Together, these findings support both TDP-43 loss and toxic gain-of-function phenotypes as contributors to the neurodegeneration in rNLS8 mice, nominating its continued utility as a preclinical model for investigating mechanisms of neurodegeneration in ALS/FTLD-TDP.…”
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2903
Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?
Published 2019-01-01“…This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency.…”
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2904
Novel Breeding Techniques and Strategies for Enhancing Greenhouse Vegetable Product Quality
Published 2025-01-01“…These methods accelerate phenotyping and aid in identifying traits and genetic variants linked to quality characteristics. …”
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2905
Current Advances in Red Blood Cell Generation Using Stem Cells from Diverse Sources
Published 2019-01-01“…Moreover, individuals with severe hematological abnormalities or rare blood phenotypes need alternative therapeutic approaches instead of conventional blood transfusion. …”
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2906
Maternal asthma imprints fetal lung ILC2s via glucocorticoid signaling leading to worsened allergic airway inflammation in murine adult offspring
Published 2025-01-01“…Offspring of asthmatic mothers show phenotypic alteration of their lung ILC2s during fetal life, with increased expression of genes related to activation and glucocorticoid signaling. …”
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2907
Integrated physiological and transcriptomic data revealed the cold-resistant mechanisms in reproductive organs of the ‘Jinguang’ pear cultivar
Published 2025-02-01“…In this study, we evaluated the response of the flowers and young fruits of the ‘Jinguang’ pear cultivar to low temperatures from integrated phenotypic, physiological, and molecular approaches. …”
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2908
A toolkit for quantifying individual response to herbal extracts in metabolic and inflammatory stress
Published 2025-02-01“…This research emphasizes the quantification of phenotypic changes for personalized nutrition and health optimization. …”
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2909
Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacil...
Published 2025-01-01“…Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. …”
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2910
IS IT POSSIBLE TO PREDICT TUMOR PROGRESSION THROUGH GENOMIC CHARACTERIZATION OF MONOCLONAL GAMMOPATHY AND SMOLDERING MULTIPLE MYELOMA?
Published 2024-04-01“…MGUS and SMM are heterogeneous conditions with the presence of tumors with distinct pathogenic phenotypes and clinical outcomes. The identification of MGUS and SMM patients with a molecularly defined high risk of progression to MM offers the unique opportunity of early intervention with a therapeutic approach on a low tumor burden. …”
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2911
Morphological evaluations in buffaloes (Bubal- us bubalis) in Venezuela
Published 2023-11-01“… The buffalo herds in Venezuela are characterized by a high phenotypic polymorphism, showing high diversity among individuals. …”
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2912
Distinct patterns of prion strain deposition and toxicity in a novel whole brain organotypic slice culture system
Published 2025-02-01“…Different conformations of misfolded prions can occur, leading to distinct disease phenotypes or strains and the accumulation of prions in distinct brain regions. …”
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2913
Sensitivity of coronary hemodynamics to vascular structure variations in health and disease
Published 2025-01-01“…Our results suggest that the diameter ratio between left coronary branches plays a substantial role in generating adverse hemodynamic phenotypes and can amplify the effect of other geometric features such as bifurcation position and angle, and vessel tortuosity. …”
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2914
Prediction of Associations between OMIM Diseases and MicroRNAs by Random Walk on OMIM Disease Similarity Network
Published 2013-01-01“…In this paper, random walk on OMIM disease similarity network is applied to predict potential OMIM disease-miRNA associations under the assumption that functionally related miRNAs are often associated with phenotypically similar diseases. Our method makes full use of global disease similarity values. …”
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2915
Comparisons of performances of structural variants detection algorithms in solitary or combination strategy.
Published 2025-01-01“…Structural variants (SVs) have been associated with changes in gene expression, which may contribute to alterations in phenotypes and disease development. However, the precise identification and characterization of SVs remain challenging. …”
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2916
Genetic Variants in SNCA and the Risk of Sporadic Parkinson’s Disease and Clinical Outcomes: A Review
Published 2017-01-01“…However, the role of SNCA variants in individual traits or phenotypes of PD is unknown. Here, we reviewed the current literature and identified 57 studies, performed in fourteen different countries, that investigated SNCA variants and susceptibility to PD. …”
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2917
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome
Published 2016-01-01“…A 45-year-old Malay female with primary amenorrhoea and primary infertility presented with abdominal mass and abdominal pain. She is phenotypically female, has well developed secondary sexual characteristics, and has normal female external genitalia with shallow vagina dimple. …”
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2918
Unraveling the metabolic landscape of Exophiala spinifera strain FM: Model reconstruction, insights into biodesulfurization and beyond.
Published 2025-01-01“…The model was rigorously validated against growth phenotypes and gene essentiality data. Through shadow price analysis, we identified costly metabolites such as 3'-phospho-5'-adenylyl sulfate, 5'-adenylyl sulfate, and choline sulfate when DBT was used as the sulfur source. iEsp1694 encompasses the degradation of aromatic compounds, which serves as a crucial first step in comprehending the pan metabolic capabilities of this strain.…”
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2919
Comprehensive genome-scale CRISPR knockout screening of CHO cells
Published 2025-01-01“…Genome-wide guide RNA (gRNA) amplicon sequencing data were generated from cell libraries, as well as short- and long-term KO libraries, and validated through phenotypic assessment and gRNA read count distribution. …”
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2920
Trait and plasticity evolution under competition and mutualism in evolving pairwise yeast communities.
Published 2025-01-01“…Although we have a good understanding of how phenotypic plasticity evolves in response to abiotic environments, we know comparatively less about responses to biotic interactions. …”
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