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1401
The Potential Impact of HNRNPA2B1 on Human Cancers Prognosis and Immune Microenvironment
Published 2024-01-01“…This included analyzing the association of HNRNPA2B1 expression with prognosis, tumor mutation burden (TMB), microsatellite instability (MSI), immune response, and immune cell infiltration of individual tumors. …”
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1402
Consensus guidelines for the management of treatment-naïve chronic lymphocytic leukaemia in Singapore (2024)
Published 2025-01-01“…Due to the superior efficacy of targeted agents (Bruton's tyrosine kinase inhibitors [BTKis] and B-cell lymphoma 2 inhibitors [BCL2is]), sthese are favoured over standard chemotherapy or chemotherapy-immunotherapy, especially for patients with del(17p) or TP53 mutation, and less fit patients. Conclusion: These consensus statements provide practical recommendations for the current management of TN CLL patients in Singapore and similar healthcare systems based on up-to-date evidence. …”
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1403
Comparison of natural and artificial vasopressin deficiency: why the latter is lethal?
Published 2016-05-01“…The transgenic mouse technology is widespread, however, untill now 22.0 % of tested null mutations was found to be lethal. The complete lack of vasopressin (AVP) resulted also in preweaning lethality. …”
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1404
Impact of Temozolomide on Immune Response during Malignant Glioma Chemotherapy
Published 2012-01-01“…Deletion of O6-methylguanine-DNA-methyltransferase (MGMT) activity, a DNA repair enzyme, by temozolomide has been determined to be the cause of lymphopenia. Drug-resistant mutation of the MGMT protein has been shown to render chemoprotection against TMZ. …”
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1405
Detection and Validation of A2 Milk Suitable for Consumers Having Milk Intolerance by ELISA Method
Published 2023-12-01“…Casein proteins, which make up 80% of the total proteins in cow's milk, consist of mainly A1 and A2 genetic types which differ by a mutation that causes conversion from proline to histidine. …”
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1406
SEM-2/SoxC regulates multiple aspects of C. elegans postembryonic mesoderm development.
Published 2025-01-01“…Detailed analyses of mutant animals harboring this point mutation uncovered new functions of SEM-2 in the M lineage. …”
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1407
An Adverse Reaction in the Pediatric Sleep Laboratory
Published 2016-01-01“…We present a case of a 15-month-old boy with Cornelia de Lange Syndrome (NIPBL gene mutation). On a PSG, central sleep apnea (central apnea-hypopnea index of 19/hour) and nocturnal hypoventilation (transcutaneous CO2 > 50 mmHg for 53% of the night) were found. …”
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1408
Effects of Single Nucleotide Polymorphism Marker Density on Haplotype Block Partition
Published 2016-12-01“…The location and distribution of haplotype blocks can be seen as a population property influenced by population genetic events such as selection, mutation, recombination and population structure. In this study, we investigate the effects of the density of markers relative to the full set of all polymorphisms in the region on the results of haplotype partitioning for five popular haplotype block partition methods: three methods in Haploview (confidence interval, four gamete test, and solid spine), MIG++ implemented in PLINK 1.9 and S-MIG++. …”
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1409
A Stepwise Discrimination Method of Multi-Index in Landslide Stability Monitoring
Published 2022-01-01“…Relied on the monitoring data on deep displacement of borehole of a landslide in Wushan County, Chongqing, China, this study finds that a single index is easily disturbed by external factors, causing the abnormal mutation in curve which affects analysis of landslide deformation. …”
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1410
Rare skin adverse reactions induced by osimertinib: a case report and literature review
Published 2025-01-01“…Osimertinib is a third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) used in the treatment of EGFR mutation-positive advanced non-small cell lung cancer. …”
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1411
A novel topology optimization of coverage-oriented strategy for wireless sensor networks
Published 2021-04-01“…Combining the characteristics of topology structure of wireless sensor networks and the optimization idea of the wolf pack algorithm redefines the group’s wandering and surprise behavior. A novel head wolf mutation strategy is proposed, which increases the neighborhood search range of the optimal solution, enhances the uniformity of wolf pack distribution and the ergodicity ability of the wolf pack search, and greatly improves the calculation speed and the accuracy of the wolf pack algorithm. …”
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1412
A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry
Published 2024-01-01“…Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. …”
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1413
Modeling and Solving Multi-Objective Path Planning Problem for Cooperative Cable-Suspended Load Transportation Considering the Time Variable Risk
Published 2025-01-01“…Furthermore, a chaotic mutation operator prevents premature convergence in the PSO algorithm. …”
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1414
Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?
Published 2019-01-01“…This study evaluates MEFV gene mutations as background pathology of idiopathic CRMO. …”
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1415
The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis.
Published 2025-01-01“…Mutations of the Cullin-3 (Cul3) E3 ubiquitin ligase are associated with autism and schizophrenia, neurological disorders characterized by sleep disturbances and altered synaptic function. …”
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1416
Unique Case Report of a Meningeal Sarcoma Arising during Ongoing Treatment for Progressing Intraparenchymal Glioma
Published 2019-01-01“…Genetic testing revealed no pathogenic mutation in the TP53 gene. Ultimately, treatment was unsuccessful and the patient succumbed to glioma and sarcoma within 2 years of initial diagnosis. …”
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1417
A Modified Wolf Pack Algorithm for Multiconstrained Sparse Linear Array Synthesis
Published 2020-01-01“…Selective mutation enhances the robustness of the algorithm and improves the search speed. …”
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1418
Fuzzy Mixed Assembly Line Sequencing and Scheduling Optimization Model Using Multiobjective Dynamic Fuzzy GA
Published 2014-01-01“…The enhanced algorithm dynamically adjusts the population size, number of generations, tournament candidate, crossover rate, and mutation rate compared with using fixed control parameters. …”
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1419
The JN.1 variant of COVID-19: immune evasion, transmissibility, and implications for global health
Published 2025-01-01“…Findings reveal that JN.1 exhibits higher infectivity and immune evasion than previous variants, largely due to the L4555 mutation. From November 2023 to March 2024, JN.1 showed an increasing trend in transmission. …”
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1420
Bilateral Jugular Vein and Sigmoid Sinus Thrombosis Related to an Inherited Coagulopathy: An Unusual Presentation
Published 2014-01-01“…According to the etiological workup, she had a mutation in the homozygous methylene tetrahydrofolate reductase (MTHFR) gene and reduced protein C levels and activity. …”
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