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3161
Extracellular matrix shapes cancer stem cell behavior in breast cancer: a mini review
Published 2025-01-01“…It occurs when a small number of cells in the body mutate, causing some of them to evade the body’s immune system and proliferate uncontrollably. …”
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3162
Successful Kidney Transplantation for End-Stage Renal Disease in Marfan's Syndrome
Published 2013-01-01“…Marfan’s syndrome is a systemic disorder of the connective tissue caused by mutations in the extracellular matrix protein fibrillin-1, with aortic dissection and aneurysm being its most life-threatening manifestations. …”
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3163
Quantitative evaluation of the molecular marker using droplet digital PCR
Published 2020-03-01“…They can be a powerful species-specific marker without regression mutations by the structure variation (SV) at the time of genomic evolution. …”
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3164
Chemical-guided SHAPE sequencing (cgSHAPE-seq) informs the binding site of RNA-degrading chimeras targeting SARS-CoV-2 5’ untranslated region
Published 2025-01-01“…To locate the binding site, we developed a sequencing-based method namely cgSHAPE-seq, in which an acylating probe was directed to crosslink with the 2’-OH group of ribose at the binding site to create read-through mutations during reverse transcription. cgSHAPE-seq unambiguously determined a bulged G in SL5 as the primary binding site, which was validated through mutagenesis and in vitro binding experiments. …”
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3165
Ego-Motion Estimation for Autonomous Vehicles Based on Genetic Algorithms and CUDA Parallel Processing
Published 2025-01-01“…By generating an initial seed of random motion candidates and iteratively mutating and selecting the best-performing individuals, we minimize the cost function that measures image similarity between frames. …”
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3166
Latent Inflammation and Insulin Resistance in Adipose Tissue
Published 2017-01-01“…It mostly develops as a result of dysregulated insulin signaling in insulin-sensitive cells, as compared to inactivating mutations in insulin receptor or signaling proteins that occur relatively rare. …”
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3167
Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment
Published 2024-12-01“…Extensive analyses were carried out for a potent activator, 4-aminobenzoic acid (PABA): PABA-bound Best1 and Best2 structures are solved and illustrate the same binding site as in GABA-bound Best2; PABA treatment rescues the functional deficiency of patient-derived Best1 mutations. Together, our results demonstrate the mechanism and potential of multiple small molecule candidates as clinically applicable drugs for bestrophin-associated diseases/conditions.…”
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3168
Genomic and Metabolomic Analyses of <i>Streptomyces albulus</i> with Enhanced ε-Poly-<span style="font-variant: small-caps">l</span>-lysine Production Through Adaptive Laboratory E...
Published 2025-01-01“…Genomic and metabolic analyses revealed that mutations occurred in genes responsible for transcriptional regulation, transporter, cell envelope, energy metabolism, and secondary metabolite synthesis, as well as the enrichment of metabolites involved in the biosynthesis of ε-PL. …”
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3169
Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome
Published 2017-01-01“…Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. …”
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3170
COVID-19 Whole-Genome Resequencing with Redundant Tiling PCR and Subtract-Based Amplicon Normalization Successfully Characterized SARS-CoV-2 Variants in Clinical Specimens
Published 2022-01-01“…Here, we propose an additional strategy for tiling PCR for whole-genome resequencing, which can make the pipeline robust for mutations at the primer annealing site by a redundant amplicon scheme. …”
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3171
Insulin/IGF-I and Related Signaling Pathways Regulate Aging in Nondividing Cells: from Yeast to the Mammalian Brain
Published 2010-01-01“…Mutations that reduce glucose or insulin/insulin-like growth factor-I (IGF-I) signaling increase longevity in organisms ranging from yeast to mammals. …”
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3172
Intratumor heterogeneity of EGFR expression mediates targeted therapy resistance and formation of drug tolerant microenvironment
Published 2025-01-01“…Abstract Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors are commonly used to treat non-small cell lung cancers with EGFR mutations, but drug resistance often emerges. Intratumor heterogeneity is a known cause of targeted therapy resistance and is considered a major factor in treatment failure. …”
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3173
The Interplay between Defensins and Microbiota in Crohn’s Disease
Published 2017-01-01“…In addition to an immunological basis, the disease is frequently associated with genetic alterations including mutations of NOD2 gene. Several therapeutic strategies to circumvent the dysfunction observed in CD are currently under investigation. …”
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3174
Prion protein promotes copper toxicity in Wilson disease
Published 2025-02-01“…Dysfunction in key components of this network leads to the disruption of Cu homeostasis, resulting in fatal disorders such as Wilson disease, which is caused by mutations in the hepatic Cu efflux transporter ATP7B. …”
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3175
Virulence Factors of Clostridioides (Clostridium) difficile Linked to Recurrent Infections
Published 2019-01-01“…Several bacterial virulence factors have been associated with RCDI, including the elevated production of toxins A and B, the presence of a binary toxin CDT, and mutations in the negative regulator of toxin expression, tcdC. …”
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3176
Hemoglobin Sunshine Seth: A Case Report of Low-Oxygen-Affinity Hemoglobinopathy
Published 2020-01-01“…Therefore, it is important to consider alternative, albeit rare, diagnoses, including hemoglobinopathies with abnormal oxygen binding properties. Mutations in the structure of alpha- and beta-globin chains can alter the affinity of hemoglobin for oxygen, and changes in oxygen affinity may result in changes in the oxygen saturation detected by pulse oximetry. …”
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3177
Substrate transport and drug interaction of human thiamine transporters SLC19A2/A3
Published 2024-12-01“…In humans, thiamine transporters SLC19A2 and SLC19A3 primarily regulate cellular uptake of both vitamins. Genetic mutations in these transporters, which cause thiamine and pyridoxine deficiency, have been implicated in severe neurometabolic diseases. …”
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3178
CCR5-ligand decorated rilpivirine lipid-based nanoparticles for sustained antiretroviral responses
Published 2025-01-01“…However, poor compliance reduces ART effectiveness and leads to immune compromise, viral mutations, and disease co-morbidities. Here we develop a drug formulation in which a lipid-based nanoparticle (LBNP) carrying rilpivirine (RPV) is decorated with the C-C chemokine receptor type 5 (CCR5) targeting peptide. …”
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3179
Gemcitabine combined with baicalein exerts antiviral activity against PEDV by inhibiting the entry and replication phases
Published 2025-02-01“…Abstract Cocktail therapy significantly reduces the development of resistance to individual medications due to viral mutations. However, for effective inhibition of a particular virus, a customized approach to combination pharmacotherapy may be essential. …”
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3180
Association between Cysticercosis and Neoplasia: A Study Based on Autopsy Findings
Published 2013-01-01“…The cells with genetic mutations proliferate in a disorganized manner, leading to the development of neoplasia. …”
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