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2301
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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2302
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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2303
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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2304
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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2305
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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2306
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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2307
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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2308
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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2309
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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2310
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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2311
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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2312
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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2313
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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2314
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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2315
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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2316
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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2317
Characterization of Staphylococcus aureus Strains Isolated from Veterinary Hospital
Published 2020-01-01“…Four strains harbor the mecA gene; however, only two expressed the phenotypic resistance to cefoxitin and were characterized as MRSA. …”
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2318
Productive capacity and genetic variation behavior in progenies from irrigated açai according to plant age
Published 2020-08-01“…Therefore, the objective of this work was to infer the best age for selection by estimating genetic and phenotypic parameters in the different stages of evaluating progenies of half-sibs of acai. …”
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2319
Evaluation of the genome in bird breeding
Published 2017-12-01“…The improvement of the separate stages of genome selection will be helped by perfection of registration and mathematical treatment of the phenotypical and molecular database, imputation and estimations of linkage disequilibrium.…”
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2320
Unique Aspects of Cryptochrome in Chronobiology and Metabolism, Pancreatic β-Cell Dysfunction, and Regeneration: Research into Cysteine414-Alanine Mutant CRY1
Published 2016-01-01“…Transgenic mice (Tg mice), ubiquitously expressing mouse CRY1 having a mutation in which cysteine414 (the zinc-binding site of CRY1) being replaced with alanine, display unique phenotypes in their circadian rhythms. Moreover, male Tg mice exhibit symptoms of diabetes characterized by beta-cell dysfunction, resembling human maturity onset diabetes of the young (MODY). …”
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