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2921
Characteristic external genitalia in male neonates with 5α-reductase deficiency
Published 2024-10-01“…The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. …”
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2922
Cell Type Specific Suppression of Hyper-Recombination by Human RAD18 Is Linked to Proliferating Cell Nuclear Antigen K164 Ubiquitination
Published 2025-01-01“…Interestingly, these phenotypes were linked to RAD18’s role in PCNA K164 ubiquitination, as HCT116 <i>PCNA<sup>K164R/+</sup></i> mutants were also hyper-rec, consistent with previous studies in <i>rad18</i><sup>−/−</sup> and <i>pcna<sup>K164R</sup></i> avian DT40 cells. …”
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2923
Pomegranate peel powder and extract improved weight control, lipid metabolism and gut microbiota in hamsters fed with standard american diets
Published 2025-06-01“…PPP and PPE feeding resulted in microbiota phyla Firmicutes-to-Bacteroidetes ratio characteristic of leaner phenotypes. HMG-CoAR and LDLR expression were reduced, suggesting that decreased uptake of LDL was not sufficient to lower plasma LDL, even with reduced cholesterol synthesis.…”
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2924
In Vitro Susceptibility and Florfenicol Resistance in Citrobacter Isolates and Whole-Genome Analysis of Multidrug-Resistant Citrobacter freundii
Published 2019-01-01“…These results provide in-depth views into the phenotypic and molecular characteristics of Citrobacter isolates recovered from animal and relevant environmental samples, as well as highlight the role horizontal gene transfer plays in the dissemination of plasmid-encoded resistance genes.…”
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2925
From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases
Published 2025-03-01“…Recent advancements have demonstrated the technology's potential to restore cellular homeostasis and alleviate disease phenotypes, thereby prompting a variety of clinical trials. …”
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2926
Multi-omics analysis of hexaploid triticale that show molecular responses to salt stress during seed germination
Published 2025-01-01“…In total, 81 marker-trait associations for 10 salt-tolerance traits were identified in 153 hexaploid triticale accessions, explaining 0.71% to 56.98% of the phenotypic variation, and 54 GWAS-associated genes were uncovered. …”
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2927
Dynamic 19F-MRI of pulmonary ventilation in lung transplant recipients with and without chronic lung allograft dysfunction
Published 2025-02-01“…Background: By the time chronic lung allograft dysfunction (CLAD), with its main phenotypes bronchiolitis obliterans syndrome (BOS) and restrictive allograft syndrome (RAS), is diagnosed by pulmonary function testing, irreversible damage to the lung allograft may already have occurred. …”
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2928
Fabry cardiomyopathy: Gb3‐induced auto‐reactive panmyocarditis requiring heart transplantation
Published 2020-06-01“…PBMC were stained using the monoclonal antibodies CD3‐V500, CD4‐V450, CD8‐APCcy7, CD45RO‐PerCPcy5.5 and CD27‐FITC from BD Biosciences and CD56‐PC7 from Bekman Coulter. The phenotypic analysis of PBMC showed a lower frequency of CD8 (9.2%) vs. 19.3% and NKT cells (1.6% vs. 2.4%) in Fabry patient respect to healthy donor, suggesting a possible homing to peripheral tissues. …”
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2929
Identification of novel clinical subtypes in patients with microscopic polyangiitis using cluster analysis: multicenter REVEAL cohort study
Published 2025-01-01“…IntroductionThis study aimed to identify new clinical phenotypes of microscopic polyangiitis (MPA) using a principal components analysis (PCA)-based cluster analysis.MethodsA total of 189 patients with MPA between May 2005 and December 2021 were enrolled from a multicenter cohort in Japan (REVEAL cohort). …”
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2930
The interplay between RNA m6A modification and radiation biology of cancerous and non-cancerous tissues: a narrative review
Published 2024-12-01“…Radiation therapy (RT) induces oncological responses, from molecular to phenotypic alterations, while simultaneously exerting toxic effects on healthy tissue. …”
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2931
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
Published 2021-01-01“…This study presents one family with two novel BBS2 variants, expanding the variant spectrum of BBS, and one family with a known homozygous MKKS variant. The different phenotypes seen between the families with BBS2 and MKKS variants will contribute to the literature and our overall understanding of BBS.…”
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2932
Allergen sensitization patterns: Allergic rhinitis with multimorbidity versus alone—A real‐world study
Published 2025-01-01“…An increased number of positive ingested allergens had a higher odds ratio (OR) for AR multimorbidity compared with inhaled allergens (1.46 vs. 1.96) across all phenotypes. Sensitization to allergens and their allergen‐specific IgE levels, including dust mites, cat dander, and milk (p < 0.05), were associated with AR multimorbidity. …”
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2933
CSF3 promotes colorectal cancer progression by activating p65/NF-κB signaling pathway and inducing an immunosuppressive microenvironment
Published 2025-03-01“…In vitro and in vivo assays were performed to investigate the oncogenic function of CSF3 in the tumor associated malignant phenotypes and the tumorigenic capability of CRC cells. …”
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2934
Determining the Heterotic Groups of Selected Grain Maize (Zea mays L.) Inbred Lines using Morphological and Phenological Traits
Published 2024-11-01“…In genetic analysis, the low difference between the percentage of phenotypic and genotypic coefficients of variation of the traits showed less effects of environmental factors on these traits. …”
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2935
Phylogenetic and pangenomic analyses of members of the family <i>Micrococcaceae</i> related to a plant-growth-promoting rhizobacterium isolated from the rhizosphere of potato (<i>S...
Published 2024-05-01“…However, these strains were isolated from strongly contrasting ecological and geographical habitats, which could not but affect their genotypes and phenotypes and which should be taken into account in evaluation of their systematic position. …”
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2936
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease
Published 2025-01-01“…These results underscore the importance of genotyping and of accurate cardiac and extracardiac phenotyping for prognostication in fetuses with CHD.…”
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2937
Population genetics studies of <i>Puccinia striiformis</i> f. sp. <i>tritici</i> in Dagestan and Northwestern Russia
Published 2021-10-01“…Results and conclusion. A total of 18 phenotypes (races) of striiformis were identified (4 in Derbent, and 14 in Pushkin). …”
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2938
High-Density Genetic Map Construction and QTL Detection for Cotyledon Color in Faba Bean Based on Double Digest Restriction-Site Associated DNA Sequencing (ddRAD-Seq)
Published 2025-01-01“…The green cotyledon trait was located using WinQTL Cart, and a <i>vfGC</i> candidate interval explaining 34.30 to 49.40% of the phenotypic variation was identified at LG02 (101.952 cM to 115.493 cM) and at LOD = 16.0, corresponding to chr1L 1,077,051,302 bp to 1,636,400,339 bp (559.35 Mb). …”
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2939
Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis
Published 2025-01-01“…Studies that investigated RpoB mutations and reported phenotypic drug susceptibility to RIF and RFB met our criteria. …”
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2940
Watermelon Germplasm with Resistance to Whitefly-transmitted Viruses
Published 2025-01-01“…Twenty-one Citrullus genotypes, including 10 C. lanatus, four C. mucosospermus, six C. amarus, and one C. ecirrhosus, were evaluated to determine their resistance to three WTVs common in Georgia in field trials for 2 years. Phenotypic data were collected weekly to determine viral disease severity, and the cumulative season data were calculated as the area under the disease progress curve. …”
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