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1041
Identification of maize kernel varieties based on interpretable ensemble algorithms
Published 2025-02-01“…The base learner of the Stacking integration model was selected using diversity and performance indices, with parameters optimized through a differential evolution algorithm incorporating multiple mutation strategies and dynamic adjustment of mutation factors and recombination rates. …”
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1042
Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report
Published 2025-01-01“…In addition, further pathological investigation of the background lung tissue revealed deposition of amyloid transthyretin (TTR), although no radiological findings suggestive of pulmonary amyloidosis were present. A genetic mutation screening test revealed pathological TTR gene mutation of heterozygous Tyr114His (p.Tyr134His). …”
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1043
Serum connexin 26 as a potential marker of non-syndromic hearing loss
Published 2025-01-01“…Measuring of connexin 26 by ELISA is more sensitive and specific than 35 del G mutation where sensitivity was 11.45 and 5.7% for both hetero and homo mutation. …”
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1044
A graph neural network approach for hierarchical mapping of breast cancer protein communities
Published 2025-01-01“…The resulting hierarchical map of protein communities shows how gene-level mutations and survival information converge on protein communities at different scales. …”
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1045
Assessment of MGMT and TERT Subtypes and Prognosis of Glioblastoma by Whole Tumor Apparent Diffusion Coefficient Histogram Analysis
Published 2025-01-01“…Results: MGMT promoter methylation and TERT promoter mutation were detected in 53.2% and 44.3% of GBM patients, respectively. …”
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1046
Enhancement of Streptomyces aureoverticillatus HN6 through mutagenesis for improved biocontrol of banana wilt disease: an WGS approach
Published 2025-01-01“…These findings serve as a valuable technical reference for the mutation breeding of Streptomyces. Graphical Abstract…”
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1047
Integrating multiomics analysis and machine learning to refine the molecular subtyping and prognostic analysis of stomach adenocarcinoma
Published 2025-01-01“…We downloaded the multiomics data of STAD patients in The Cancer Genome Atlas (TCGA)-STAD cohort, which included mRNA, microRNA, long non-coding RNA, somatic mutation, and DNA methylation data, from the sxdyc website. …”
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1048
3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons
Published 2014-01-01“…Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. …”
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1049
EXO1 is a key gene for lung-resident memory T cells and has diagnostic and predictive values for lung adenocarcinoma
Published 2025-02-01“…Moreover, patients with EXO1 mutation had worse DSS, DFI and PFI.…”
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1050
Genetic markers on the distribution of ancient marine hunters in Priokhotye
Published 2020-08-01“…The data on mitochondrial DNA polymorphism and the “Arctic” mutation distribution – the rs80356779-A variant of the CPT1A gene – were analyzed. …”
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1051
Frameshift variation in the HMG-CoA reductase gene and unresponsiveness to cholesterol-lowering drugs in type 2 diabetes mellitus patients
Published 2025-01-01“…These two patients showed non-responsiveness to atorvastatin 40 mg due to a genetic mutation in the HMGCR gene. This mutation altered the amino acid sequence in the flap domain, replacing isoleucine with a stop codon. …”
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1052
Ensemble machine learning models for lung cancer incidence risk prediction in the elderly: a retrospective longitudinal study
Published 2025-01-01“…Men ≥ 65 carrying C > A/G > T mutation had the highest lung cancer incidence decrease of 39.5% after five years quitting in stratified elderly groups, which were 1.83 times more than women ≥ 65 not carrying C > A/G > T mutation. …”
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1053
Topology Optimization of the Network with Renewable Energy Sources Generation Based on a Modified Adapted Genetic Algorithm
Published 2022-08-01“…The proposed genetic algorithm used two different functions of interbreeding, the function of mutation, selection of the best individuals and mass mutation (complete population renewal). …”
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1054
Ongoing measles outbreak in Romania: Clinical investigation and molecular epidemiology performed on whole genome sequences.
Published 2025-01-01“…Furthermore, these two clusters presented different mutation profiles in the hemagglutinin (HA) and neuraminidase (N) genes with implications for molecular surveillance.…”
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1055
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Published 2022-01-01“…These mutations occurred de novo in 3/5 families, with the remaining families being compatible with autosomal dominant inheritance. …”
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1056
Impact of Tunnel Groups on Pupil Diameter of Drivers on Mountainous Freeway in China: A Real-World Driving Study
Published 2021-01-01“…Subsequently, a related model for the PPDV of drivers and the length of the connecting zone between tunnels was established, its reliability evaluated, and the smooth mutation value obtained on the basis of the mutation theory. …”
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1057
Assessment of Self-Activation and Inhibition of Wheat Coiled-Coil Domain Containing NLR Immune Receptor Yr10<sub>CG</sub>
Published 2025-01-01“…However, we observed that mutations in the conserved MHD motif, specifically D502G, activated Yr10<sub>CG</sub> and induced cell death. …”
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1058
Deep Vein Thrombosis and Pulmonary Embolism Secondary to Thrombophilic Disorder: A Case Report
Published 2025-02-01“…The most common inherited thrombophilias—such as Factor V Leiden mutation, prothrombin G20210A mutation and deficiencies in protein C, protein S and antithrombin III—are a group of genetic conditions that predispose individuals to thrombotic events by influencing various factors involved in the coagulation cascade. …”
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1059
Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management
Published 2012-01-01“…The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. …”
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1060
Reducing neonatal Fc receptor binding enhances clearance and brain-to-blood ratio of TfR-delivered bispecific amyloid-β antibody
Published 2024-12-01“…A variant of each antibody was designed to harbor a mutation to the neonatal Fc receptor (FcRn) binding domain, to increase clearance. …”
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