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2641
Clonal Populations of Amniotic Cells by Dilution and Direct Plating: Evidence for Hidden Diversity
Published 2012-01-01“…Fetal cells are widely considered a superior cell source for regenerative medicine; fetal cells show higher proliferative capacity and have undergone fewer replicative cycles that could generate spontaneous mutations. Fetal cells in amniotic fluid were among the first normal primary cells to be cultured ex vivo, but the undefined composition of amniotic fluid has hindered advance for regenerative applications. …”
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2642
Transcriptome-proteome integration analysis identifies elevated expression of LARP7 promoting the tumorigenesis and development of gastrointestinal stromal tumors
Published 2025-03-01“…Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the digestive tract, with c-kit and PDGFRA mutations being the primary causes. However, GIST pathogenesis is not still fully understood. …”
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2643
Molecular Detection of Candida tropicalis Isolated from Immunocompromised Patients with Otitis Media
Published 2025-01-01“…The mutant isolate, has more than one substitution mutations. We are concluded that Candida tropicalis is reported as the most causative agent of otitis media. …”
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2644
Transcription factor TCF4: structure, function, and associated diseases
Published 2024-11-01“…This hinders progress in basic and applied biological and medical sciences, especially in treating hereditary diseases, which are caused by mutations and polymorphic variants in individual genes. …”
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2645
Rabex-5 E3 and Rab5 GEF domains differ in their regulation of Ras, Notch, and PI3K signaling in Drosophila wing development.
Published 2024-01-01“…Here we report genetic interactions using Rabex-5 transgenes encoding domain-specific mutations that show that Rabex-5 requires an intact E3 domain to inhibit Notch signaling in the epithelial tissue of the developing wing. …”
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2646
Emergence of SARS-CoV-2 subgenomic RNAs that enhance viral fitness and immune evasion.
Published 2025-01-01“…We observe distinct phenotypes when the Nucleocapsid coding sequence is mutated compared to when the TRS alone is ablated. …”
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2647
Passé traumatique, mémoire, histoire confisquée et identité volée : la déportation des tatars de Crimée par Staline en mai 1944 (le « Surgûn »)
Published 2006-10-01“…Ce processus de reconstruction identitaire a lieu aujourd’hui dans un contexte conflictuel créé par les avatars de l’histoire et les fréquentes mutations de peuples, qui ont modifié la configuration ethnique de la péninsule de Crimée.…”
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2648
Characterization of Patients with Cystic Fibrosis in Multidisciplinary Consultation
Published 2020-02-01“…Patients were group according to the following variables: age, sex and municipality of origin, the clinical manifestations that suggested the diagnosis, age of presentation and the age at diagnosis, presence of digestive manifestations, germs isolated in microbiological studies, mutations found in patients with cystic fibrosis. For the processing of numerical data descriptive statistics techniques were used. …”
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2649
Characterization of m6A Methylation Modification Patterns in Colorectal Cancer Determines Prognosis and Tumor Microenvironment Infiltration
Published 2022-01-01“…The results indicated that the expression profiles and genetic mutations of 21 genes encoding m6A methylation regulators in CRC were characterized by a high degree of heterogeneity. …”
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2650
Development of a Model Mutagenesis System for Snapdragon
Published 2020-09-01“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
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2651
Comprehensive Analysis of Gene Signatures of m6ARNA Methylation Regulators in Lung Adenocarcinoma and Development of a Risk Scoring System
Published 2022-01-01“…We systematically studied correlations among important M6A methylation regulators, tumor mutational burden (TMB), and immune infiltration in clinical and sequencing data from the LUAD cohort of the cancer genome map (TCGA). …”
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2652
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01“…The c.9273 + 1G > A variant has been documented in two independent studies, one from the United states and the other from the United Kingdom. Two mutations, a nonsense c.5299C > T and a frameshift single nucleotide deletion c.4180delG are currently mentioned in few databases only. …”
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2653
Development of a Model Mutagenesis System for Snapdragon
Published 2020-09-01“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
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2654
Genomic and Computational Analysis of Novel SNPs in TNP1 Gene Promoter Region of Bos indicus Breeding Bulls
Published 2022-01-01“…The CpG islands in the TNP1 promoter region were predicted to be absent by the MethPrimer program before and after SNP site mutations. These findings pave the way for more research into the TNP1 gene’s promoter activity and the links between these SNPs and reproductive attributes in the Sahiwal breeding bulls.…”
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2655
The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis.
Published 2004-08-01“…Hematopoiesis is precisely orchestrated by lineage-specific DNA-binding proteins that regulate transcription in concert with coactivators and corepressors. Mutations in the zebrafish moonshine (mon) gene specifically disrupt both embryonic and adult hematopoiesis, resulting in severe red blood cell aplasia. …”
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2656
Human SLC26A1 Gene Variants: A Pilot Study
Published 2013-01-01“…DNA sequence analyses showed missense mutations in seven patients: one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. …”
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2657
Microsporidian Nosema bombycis secretes serine protease inhibitor to suppress host cell apoptosis via Caspase BmICE.
Published 2025-01-01“…Knocking out of BmICE or mutating the BmICE-interacting P1 site of NbSPN14, eliminated the localization of NbSPN14 into the host nucleus and prevented the apoptosis-inhibiting effect of NbSPN14, which also proved that the interaction between BmICE and NbSPN14 occurred in host cytoplasm and the NbSPN14 translocation into host cell nucleus depends on BmICE. …”
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2658
PD-1 Blockade in Advanced Melanoma in Patients with Hepatitis C and/or HIV
Published 2015-01-01“…On the basis of remarkable antitumor activity, programmed death receptor-1 (PD-1) inhibitors pembrolizumab and nivolumab were approved for the treatment of advanced melanoma in the second-line setting following progression on either CTLA-4 inhibitor ipilimumab or BRAF/MEK inhibitors (for BRAF mutated melanoma). Given hypothesized risk of triggering exacerbations of autoimmune diseases and/or chronic viral infections, clinical trials (including regulatory studies) evaluating checkpoint blocking antibodies PD-1 and CTLA-4 have excluded patients with autoimmune diseases, chronic hepatitis B/C virus (HBV/HCV), and/or human immunodeficiency virus (HIV) infections. …”
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2659
Vaccines for cancer interception in familial adenomatous polyposis
Published 2025-01-01“…Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder caused by germline mutations in the adenomatous polyposis coli (APC) gene. …”
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2660
Improved production strain maintenance technique for Burkholderia mallei 5584 (Master seed) used for glander diagnostic agent production
Published 2024-03-01“…The previous strain maintenance technique involved its storage in its native state, which facilitated accumulation of genetic mutations and, ultimately modification of bacterial cell properties. …”
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