Suggested Topics within your search.
Suggested Topics within your search.
- Genetic Phenomena 2
- Genetic Techniques 2
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121
Decreased SynMuv B gene activity in response to viral infection leads to activation of the antiviral RNAi pathway in C. elegans.
Published 2025-01-01“…The multivulval (Muv) phenotype of synMuv B mutants requires the presence of a second nematode-specific synMuv A gene mutation, but the enhanced RNAi of synMuv B mutants does not require a second synMuv A mutation. …”
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122
A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report
Published 2025-02-01“…Whole exome sequencing (WES) indicated a tumor mutation burden (TMB) of 2.98 mut/Mb, microsatellite stability (MSS), and identified 10 missense mutations, 1 nonsense mutation, and 1 frameshift insertion. …”
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123
Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients
Published 2025-02-01“…Along with this mutation, two previously undescribed mutations (c.35dup and c.176A>G) were discovered in a compound heterozygous state.Conclusions. …”
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124
Diagnosis and treatment of thyroblastoma: a case report and review of literature
Published 2025-02-01“…Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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125
Diversity in Adaptive Evolution of Methicillin-Resistant Staphylococcus aureus Clinical Isolates Under Exposure to Continuous Linezolid Stress in vitro
Published 2025-02-01“…Except G2576T mutations in 23S rRNA gene, the distribution of other mutations (A2451T, T2504A, C2404T, T2500A, G2447T) exhibited obvious strain heterogeneity. …”
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126
Improving Strawberry Varieties by Somaclonal Variation
Published 2022-10-01“…This offers an alternative to mutation breeding for the introduction of new genetic variations in existing strawberry varieties. …”
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127
Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon
Published 2011-05-01“…Of all patients 60,2 % had classical form of disease, 24,4% – aggressive, 15,4% – attenuated. At attenuated form mutation in АРС gene occurred within 450 and 510 codons and on the edges of this gene that allows both to reveal disease at preclinical stage, and to identify the attenuated variant. …”
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128
The adaptation of rainbow trout to warmer water: Oxidative damage in the germinal line
Published 2025-01-01“…This implies a high mutation rate and/or a modified epigenetic inheritance. …”
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129
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA
Published 2025-02-01“…Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. As a result, undigested glycogen accumulates within lysosomes causing their dysfunction. …”
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130
Microbiology /
Published 2005Table of Contents: “…The history and scope of microbiology -- The study of microbial structure: microscopy and specimen preparation -- Procaryotic cell structure and function -- Eucaryotic cell structure and function -- Microbial nutrition -- Microbial growth -- Control of microorganisms by physical and chemical agents -- Metabolism: energy, enzymes, and regulation -- Metabolism: energy release and conservation -- Metabolism: the use of energy in biosynthesis -- Genes: structure, replication, and mutation -- Genes: expression and regulation -- Microbial recombination and plasmids -- Recombinant DNA technology -- Microbial Genomics -- The viruses: introduction and general characteristics -- The viruses: bacteriophages -- The viruses: viruses of eucaryotes -- Microbial taxonomy -- The archaea -- Bacteria: the deinococci and nonproteobacteria gram negatives -- Bacteria: the proteobacteria -- Bacteria: the Low G 1 C gram positives -- Bacteria: the High G 1 C gram positivies -- The fungi (eumycota), slime molds, and water molds -- The algae -- The protozoa -- Microorganism interactions and microbial ecology -- Microorganisms in aquatic environments -- Microorganisms in terrestrial environments -- Normal microbiota and nonspecific host resistance -- Specific immunity -- Medical immunology -- Pathogenicity of microorganisms -- Antimicrobial chemotherapy -- Clinical microbiology -- The epidemiology of infectious disease -- Human diseases caused by viruses -- Human diseases caused by bacteria -- Human diseases causedd by fungi and protozoa -- Microbiology of food -- Industrial microbiology and biotechnology.…”
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131
Engineering a bacterial toxin deaminase from the DYW-family into a novel cytosine base editor for plants and mammalian cells
Published 2025-02-01“…We report a novel CRISPR/Cas9-cytosine base editor using SsdA, a DYW-like deaminase and bacterial toxin. A G103S mutation in SsdA enhances C-to-T editing efficiency while reducing its toxicity. …”
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132
200 ans de Code Civil /
Published 2004Table of Contents: “…Le XIXe siècle, âge d'or du code civil / Jacques Bouineau -- Permanences et mutations du Code civil au XXe siècle / Jérôme Roux.…”
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133
Comprehensive genomic and transcriptomic profiling of pulmonary nodules in synchronous multiple primary lung cancer
Published 2025-02-01“…However, a comprehensive understanding of the somatic mutation landscape and transcriptome heterogeneity is lacking. …”
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134
Case report: Low-dose radiation reverses pembrolizumab resistance in melanoma
Published 2025-02-01“…Immunotherapy has been the mainstay of the initial systemic treatment for metastatic melanoma regardless of the tumor’s genetic mutation status (Atkins et al., 2022). It is known to offer long-term overall and treatment-free survival benefits, also with generally tolerable side effect profiles. …”
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135
The phenomenon of mobbing in Serbia and Europe
Published 2017-01-01“…The dose of seriousness concerning the issue of mobbing isn’t only given for its negative effect on a business organization, but also for the mutation of a society’s culture, as well. The research paper outlines the mobbing phenomenon by presenting the theoretical and practical (statistical) diagnosis through which, for a better understanding of the situation, there are added testimonies of mobbing victims, as well as legal and extra-judicial solutions for the issue. …”
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136
The role of the patients register in early diagnostics of familial adenomatosis coli
Published 2010-08-01“…Genetic testing detected disease at preclinical stage in 18 (56%) of 32 actively investigated relatives of proposituses, allowed to form the risk group of patients from АРС-negative families and to remove patients who have not inherited АРС (Adenomatous Polyposis Coli) mutation from further observation.Conclusion. Presence of the Register of patients with familial adenomatosis coli promotes early diagnostics, improves of results of treatment and optimize monitoring of this category of patients.…”
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137
Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review
Published 2025-02-01“…The genetic characteristic is a heterozygous nonsense mutation of the SRCAP gene. rhGH treatment is an effective treatment method for FHS.…”
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138
Gastroduodenal form of Crohn's disease
Published 2015-10-01“…By the present time association of GDCD with L1007P mutation of NOD2/CARD15 gene is detected. Epigastric pain, loss of body weight, nausea and — in some cases — vomiting are the most frequent symptoms of this pathology. …”
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139
Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations
Published 2025-02-01“…Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. …”
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140
Melanoma genomics – will we go beyond BRAF in clinics?
Published 2024-09-01“…However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecularly targeted treatment of advanced melanoma. …”
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