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1681
Identification of critical biomarkers and immune landscape patterns in glioma based on multi-database
Published 2025-01-01“…These 3 genes were found significantly correlated with clinicopathological features (age, WHO grade, IDH mutation status, 1p19q codeletion status). Furthermore, the overall survival (OS), disease-specific survival (DSS), and progression-free survival (PFS) were found to be positively correlated with high expression of these 3 potential biomarkers. …”
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1682
Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the l...
Published 2018-01-01“…Genetic analysis was performed and diagnosis of MWS was confirmed due to the presence of a NLRP3 gene mutation. Further work-up demonstrated the presence of papilledema and elevation of systemic inflammatory markers for which Canakinumab was initiated. …”
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1683
In Vivo Evaluation of the Combined Anticancer Effects of Cisplatin and SAHA in Nonsmall Cell Lung Carcinoma Using [18F]FAHA and [18F]FDG PET/CT Imaging
Published 2021-01-01“…Moreover, SAHA had a more significant effect on the acetylome in PC14 (EGFR exon 19 deletion mutation) xenografts than H441 (wild-type EGFR and KRAS codon 12 mutant) xenografts. …”
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1684
Developing transcriptomic biomarkers for TAVO412 utilizing next generation sequencing analyses of preclinical tumor models
Published 2025-02-01“…Together with specific driver mutation that associated with efficacy and the targets of TAVO412, a set of 21-gene biomarker was identified to predict the efficacy. …”
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1685
Mutagenicity and Acute Oral Toxicity Test for Herbal Poultry Feed Supplements
Published 2018-01-01“…The present study was designed to investigate five poultry feed supplements (PFS), EGMAX® (to revitalize ovarian activity), FEED-X™ (feed efficiency enhancer), KOLIN PLUS™ (natural replacer of synthetic choline chloride), PHYTOCEE® (natural defence enhancer), and STODI® (to prevent and control loose droppings), for their possible mutagenicity and toxicity. Bacterial reverse mutation (BRMT) and acute oral toxicity tests were employed to assess the PFS for their possible mutagenicity and toxicity. …”
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1686
Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia
Published 2012-01-01“…In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. …”
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1687
Failure mechanics mechanisms and permeability stage evolution of limestone considering wave velocity and failure surface characteristics
Published 2025-02-01“…Because rock permeability varies with confining pressure and axial pressure, there is a stress threshold for penetration mutation at each stage. The linear and nonlinear stage evolution characteristics of deep rock permeability and stress with confining pressure are established. …”
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1688
Two Cysteines in Raf Kinase Inhibitor Protein Make Differential Contributions to Structural Dynamics In Vitro
Published 2025-01-01“…Here, we identified the role of cysteine 133 in RKIP structural dynamics using recombinant human RKIP (rhRKIP) proteins purified from <i>Escherichia coli</i> BL21(DE3) cells. Mutation of alanine or serine instead of cysteine in RKIP proteins did not affect the biochemical characteristics, while dynamic light scattering and liquid chromatography (LC) quadrupole time-of-flight (Q-TOF) mass spectrometry (MS) suggested distinct peaks in solution, which were identified via LC–MS/MS analyses, and further clarified the role of cysteine in RKIP dimerization. rhRKIP dimer formation was abrogated by a 32-aa peptide mimicking the region between two RKIP proteins for dimerization. …”
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1689
Association of AFF3 Gene Polymorphism rs10865035 with Rheumatoid Arthritis: A Population-Based Case-Control Study on a Pakistani Cohort
Published 2021-01-01“…A total of 703 individuals, including 409 RA patients and 294 healthy controls, were genotyped using TaqMan assay and Tri primer ARMS-PCR (amplification-refractory mutation system-polymerase chain reaction) methods. …”
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1690
Clinical analysis of pulmonary mucosa-associated lymphoid tissue lymphoma coexisting with lung cancer
Published 2025-01-01“…Five cases exhibited EGFR mutant, and one case showed no mutation. 13 patients were pathological confirmed with lung adenocarcinoma and one with microcarcinoma. …”
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1691
Transmitted Drug Resistance among People Living with HIV/Aids at Major Cities of Sao Paulo State, Brazil
Published 2013-01-01“…Moreover, 6/17 (35%) had multiple mutations associated with resistance to one or more classes. …”
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1692
Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures
Published 2025-01-01“…Abstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. …”
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1693
Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Published 2025-02-01“…Conclusion In this paper, Qira sheep could not differentiate the genetic structure of this population by wool color, and obtained 71 SNPs related to black wool. Detection of mutation sites on the TYRP1 gene affecting hair color change provides a basis for black sheep line selection as well as breed conservation.…”
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1694
Unusual Presentation of Recurrent Early Stage Endometrial Carcinoma 28 Years after Primary Surgery
Published 2015-01-01“…Patient had also familiar and personal history of colonic adenocarcinoma and previous findings of microsatellite instability (MSI); molecular analysis evidenced heterozygotic somatic mutation in MLH1 gene. Twenty-eight years after hysterectomy and bilateral salpingoovariectomy, a rectal wall mass was detected during routine colonoscopy. …”
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1695
Identification of Survival Risk and Immune-Related Characteristics of Kidney Renal Clear Cell Carcinoma
Published 2022-01-01“…A series of information such as RNA sequence, clinical data, and tumor mutation burden (TMB) of KIRC patients were downloaded through The Cancer Genome Atlas (TCGA). …”
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1696
A Novel Mouse Model of Alzheimer's Disease with Chronic Estrogen Deficiency Leads to Glial Cell Activation and Hypertrophy
Published 2011-01-01“…These chimeric mice exhibit a total FSH-R knockout (FORKO) and carry two transgenes, one expressing the β-amyloid precursor protein (APPsw, Swedish mutation) and the other expressing presenilin-1 lacking exon 9 (PS1Δ9). …”
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1697
Case report: an unusual long-term evolution of a diffuse midline glioma, H3K27 altered
Published 2025-02-01“…Molecular neuropathology revealed the diagnosis of diffuse midline glioma with a H3K27M mutation WHO (World Health Organization) CNS (central nervous system) grade 4. …”
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1698
The potential of the amaranth collection maintained at VIR in the context of global plant breeding and utilization trends
Published 2024-11-01“…At present, selection and hybridization still remain the main amaranth breeding techniques. Meanwhile, mutation breeding and polyploidy have been successfully employed to increase its seed yield and protein content. …”
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1699
Brincidofovir Use after Foscarnet Crystal Nephropathy in a Kidney Transplant Recipient with Multiresistant Cytomegalovirus Infection
Published 2017-01-01“…However, a new relapse could not be effectively cured by BCV due to a new mutation in the UL54 gene, which is known to confer resistance to cidofovir. …”
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1700
Pan-Cancer Analysis of Disulfidptosis-Related Genes Affecting Prognosis and Tumor Microenvironment
Published 2025-01-01“…MethodsPan-cancer RNA-seq data, mutation profiles, clinical information, TMB, MSI, stemness scores, and tumor and immune microenvironment data contained in TCGA and various open-source online databases, and multi-group R-language algorithms were used for comprehensive analysis. …”
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