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421
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Published 2025-04-01“…This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.…”
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422
Comprehensive cDNA cloning and putative feature analysis of endogenous cellulases possessed by the Pacific oyster, Crassostrea gigas.
Published 2025-01-01“…Therefore, our objective was to identify the cellulases present in C. gigas through transcriptome and genomic analyses. The results showed that there are 10 cellulase orthologs, seven of which are endogenous. …”
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A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
Published 2025-03-01Get full text
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425
Targeting Nrf2/KEAP1 signaling pathway using bioactive compounds to combat mastitis
Published 2025-02-01Get full text
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426
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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
Published 2025-02-01“…Venous blood samples were collected, and genomic DNA was isolated and purified. Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole‐exome sequencing. …”
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429
Implementation of a genotyped African population cohort, with virtual follow-up: A feasibility study in the Western Cape Province, South Africa [version 2; peer review: 2 approved,...
Published 2025-01-01“…We demonstrated feasibility of nested case control genome wide association studies using these data for phenotypes type 2 diabetes mellitus (T2DM) and severe COVID-19. …”
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430
Genetic Polymorphism in Peripartum Cardiomyopathy
Published 2021-12-01“…Many evidence supporting a contribution from gene mutations in PPCM includes genome-wide association studies, familial occurrence, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. …”
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431
Ultrasound Radiogenomics-based Prediction Models for Gene Mutation Status in Breast Cancer
Published 2025-03-01“…Ultrasound radiogenomics, an emerging field at the intersection of radiology and genomics, employs high-throughput methods to convert radiological images into high-dimensional data, which are then processed to extract and analyze radiomic features. …”
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432
Understanding cancer predisposition in Singapore: what’s next
Published 2023-01-01“…All stakeholders in healthcare should be empowered with genetic knowledge to fully leverage the potential of novel genomic insights and implement them to provide better care for our patients.…”
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433
Pharmacological activity of OST-01, a natural product from baccharis coridifolia, on breast cancer cells
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Age-related changes in DNA methylation in a sample of elderly Brazilians
Published 2025-02-01“…Both aDMPs and aDMRs exhibited age-related hypermethylation within CpG islands and promoter regions of the genome, whereas hypomethylation predominantly occurred in interCGI and intergenic regions and introns. …”
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437
Phage vB_Kpn_HF0522: Isolation, Characterization, and Therapeutic Potential in Combatting K1 Klebsiella pneumoniae Infections
Published 2025-02-01“…Analysis of vB_Kpn_HF0522 characteristics, including optimal multiplicity of infection (MOI), one-step growth curve, host range, stability in different environments, and adsorption capacity. The phage genomic sequence was analyzed to explore evolutionary relationships. …”
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438
Omilayers: a Python package for efficient data management to support multi-omic analysis
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439
Author Correction: Pre-therapeutic efficacy of the CDK inhibitor dinaciclib in medulloblastoma cells
Published 2025-02-01Get full text
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440
N-of-1 medicine
Published 2024-03-01“…The fields of precision and personalised medicine have led to promising advances in tailoring treatment to individual patients. Examples include genome/molecular alteration-guided drug selection, single-patient gene therapy design and synergy-based drug combination development, and these approaches can yield substantially diverse recommendations. …”
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