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- Genetic Phenomena 2
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2761
Technological properties of grain and flour in bread wheat (<i>Triticum aestivum</i> L.) genotypes carrying two loci that determine the endosperm structure
Published 2021-04-01“…When milled, such grain breaks down into small starch granules covered with proteins. Mutations that disrupt the synthesis or structure of puroindolines determine the hardness and vitreousness of the grain. …”
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2762
Bántalmazás jelenségének vizsgálata az enyhén értelmi fogyatékos és az ép intellektussal rendelkező, tipikus fejlődésű középiskolás tanulók esetében
Published 2024-12-01“…Érték: A kutatás rávilágít arra, hogy az oktatási intézményekben a mai napig magas számban fordul elő a „bullying” jelensége, mely nemcsak a tipikus fejlődésű kiskorú korosztályt, hanem az értelmi fogyatékosok csoportját is jelentős mértékben érinti. A kutatás irányt mutat a jövőben más fogyatékossági csoportok vonatkozásában is a fenti kérdés vizsgálatához. …”
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2763
Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta
Published 2013-01-01“…Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. …”
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2764
A comprehensive pan-cancer analysis of RNF187 in human tumors
Published 2025-01-01“…The findings highlighted associations between RNF187 expression and Tumor Mutational Burden (TMB), Microsatellite Instability (MSI) and Homologous Recombination Deficiency (HRD) in specific tumors. …”
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2765
Screening Children with a Family History of Central Congenital Hypoventilation Syndrome
Published 2020-01-01“…We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. …”
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2766
Discovery of amino acid substitutions in penicillin-binding proteins associated with adaptation to D-Ala-D-Lac in vancomycin-resistant Enterococcus faecalis
Published 2025-02-01“…Here, we performed Sanger sequencing and alignment of PBP genes from both vancomycin-susceptible and -resistant E. faecalis strains to identify mutations, following amplification by PCR. We then applied homology modeling to assess structural impacts of these changes on PBPs and conducted docking studies to investigate ligand-binding interactions. …”
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2767
Identification of Synthetic Food Colours in Selected Confectioneries and Beverages in Jaffna District, Sri Lanka
Published 2019-01-01“…This may lead to severe health problems such as mutations, cancers, reduced haemoglobin concentrations, and allergic reactions. …”
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2768
An epidemiological model of SIR in a nanotechnological innovation environment
Published 2025-02-01“…Within the framework of high interdisciplinarity, nanotechnologies, like viruses, tend to 'mutate' into different industries where their 'infectivity' varies. …”
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2769
Identifying novel heterozygous PI4KA variants in fetal abnormalities
Published 2025-01-01“…Conclusions This study extended the mutational spectrum of PI4KA and may provide guidance for genetic counseling. …”
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2770
Application of Gene Expression Programming to Evaluate Strength Characteristics of Hydrated-Lime-Activated Rice Husk Ash-Treated Expansive Soil
Published 2021-01-01“…In this work, expansive soil classified as A-7-6 group soil was treated with hydrated-lime activated rice husk ash (HARHA) in an incremental proportion to produce 121 datasets, which were used to predict the behavior of the soil’s strength parameters utilizing the mutative and evolutionary algorithms of GEP. The input parameters were HARHA, liquid limit (wL), (plastic limit wP, plasticity index IP, optimum moisture content (wOMC), clay activity (AC), and (maximum dry density (δmax) while CBR, UCS, and R value were the output parameters. …”
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2771
Disulfidptosis-related immune patterns predict prognosis and characterize the tumor microenvironment in oral squamous cell carcinoma
Published 2025-02-01“…The analysis results showed that disulfidptosis was tightly related to immune cells, immunological-related pathways, the tumor microenvironment (TME), immune checkpoints, human leukocyte antigen (HLA), and tumor mutational burden (TMB). The nomogram, integrating the risk score and clinical factors, accurately predicted overall survival. …”
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2772
Colon Cancer Genetic and Epigenetic Changes, Etiopathogenesis, Risk Factors, Treatment: Literature Review
Published 2024-06-01“…Our findings emphasize the central role of genetic mutations (particularly in APC, TP53, KRAS and MMR) and epigenetic alterations, such as DNA methylation and histone modification, in the pathogenesis of colorectal cancer. …”
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2773
Előszó
Published 2023-10-01“…Egyrészt nem fogadja el a vitaindító azon állítását, mely szerint egy vita elsődleges feltétele a vitához szükséges minimális, közös szabályokban, illetve ezek betartásában rejlik, hanem a vitát megalapozó nyelvfelfogás tisztázásának szükségességére figyelmeztet, másrészt Blanchot nyomán példát mutat az analitikus-kontinentális viszony nem oppozitorikus, nem konfrontatív elbeszélésével. …”
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2774
Loss of BRCA1 Spontaneously Induces the Tumorigenesis in Lacrimal Gland
Published 2018-01-01“…We have previously shown that spontaneous tumors form frequently in mice homozygous for a full-length Brca1 deletion. In general, mutations of BRCA1 are closely associated with induction of breast and ovarian cancers but are also known to contribute to the incidence of other cancers at a low frequency. …”
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2775
Assessing bnAb potency in the context of HIV-1 envelope conformational plasticity.
Published 2025-01-01“…To systematically investigate the impact of variability in Env conformation on bnAb potency we screened 126 JR-CSF point mutants for generalized neutralization sensitivity to weakly neutralizing antibodies (weak-nAbs) depending on trimer opening and plasma from people with chronic HIV-1 infection. 23 mutations resulted in a highly neutralization sensitive phenotype, which was associated with de-stabilization of the closed, prefusion conformation. …”
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2776
VEXAS, Chediak–Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Published 2025-01-01“…It is thus well established that different cell types from Danon disease patients that harbor invalidating mutations in LAMP2 exhibit giant lysosomes containing undigested materials characteristic of defects in the fusion of lysosomes with autophagosomes, a feature also found in VEXAS and CHS. …”
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2777
Autoimmune hepatitis under the COVID-19 veil: an analysis of the nature of potential associations
Published 2025-01-01“…Currently, the overall mutational trend of SARS-CoV-2 indicates heightened infectivity and immune evasion capabilities. …”
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2778
Hydroxychloroquine Potentiates Apoptosis Induced by PPARα Antagonist in 786-O Clear Cell Renal Cell Carcinoma Cells Associated with Inhibiting Autophagy
Published 2021-01-01“…The ccRCC cells exhibit a certain degree of inherent drug resistance due to some genetic mutations. In recent years, peroxisome proliferator-activated receptor-α (PPARα) antagonists have been reported as a targeted therapeutic drug capable of inducing apoptosis and cell cycle arrest in the ccRCC cell line. …”
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2779
Status of the Multidrug Resistance-1 Gene of Plasmodium falciparum in Four Malaria Epidemiological Strata, Two Decades after the Abolition of Chloroquine as First-Line Treatment fo...
Published 2023-01-01“…Drug-resistant malaria parasites pose a threat to global malaria control efforts, and it is important to know the extent of these drug-resistant mutations in each region to determine appropriate control measures. …”
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2780
The use of maize haploidy inducers as a tool in agricultural plant biotechnology
Published 2022-11-01“…The discovery of the ability of some mutations to stimulate haploidy during hybridization made it possible to create one of the most promising and sought-after trends in the field of reproductive biology. …”
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