Articles with "nucleotide variations" as a keyword



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Detecting DNA and RNA and Differentiating Single-Nucleotide Variations via Field-Effect Transistors.

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Published in 2020 at "Nano letters"

DOI: 10.1021/acs.nanolett.0c01971

Abstract: We detect short oligonucleotides and distinguish between sequences that differ by a single base, using label-free, electronic field-effect transistors (FETs). Our sensing platform utilizes ultrathin film indium-oxide FETs chemically functionalized with single-stranded DNA (ssDNA). The… read more here.

Keywords: nucleotide variations; dna; single nucleotide; rna ... See more keywords
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Targeted Detection of Single-Nucleotide Variations: Progress and Promise.

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Published in 2019 at "ACS sensors"

DOI: 10.1021/acssensors.8b01604

Abstract: Advances in nucleic acid sequencing and genotyping technologies have facilitated the discovery of an increasing number of single-nucleotide variations (SNVs) associated with disease onset, progression, and response to therapy. The reliable detection of such disease-specific… read more here.

Keywords: nucleotide variations; targeted detection; single nucleotide; variations progress ... See more keywords
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Using single nucleotide variations in single-cell RNA-seq to identify subpopulations and genotype-phenotype linkage

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Published in 2018 at "Nature Communications"

DOI: 10.1038/s41467-018-07170-5

Abstract: Despite its popularity, characterization of subpopulations with transcript abundance is subject to a significant amount of noise. We propose to use effective and expressed nucleotide variations (eeSNVs) from scRNA-seq as alternative features for tumor subpopulation… read more here.

Keywords: single cell; nucleotide variations; variations single; cell ... See more keywords
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OWL2: a molecular beacon-based nanostructure for highly selective detection of single-nucleotide variations in folded nucleic acids.

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Published in 2023 at "Nanoscale"

DOI: 10.1039/d2nr05590b

Abstract: Hybridization probes have been used in the detection of specific nucleic acids for the last 50 years. Despite the extensive efforts and the great significance, the challenges of the commonly used probes include (1) low… read more here.

Keywords: nucleic acids; nucleotide variations; single nucleotide; detection ... See more keywords
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Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism.

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Published in 2023 at "British journal of pharmacology"

DOI: 10.1111/bph.16057

Abstract: Autism is a neurodevelopmental condition with a range of symptoms that vary in intensity and severity from person to person. Genetic sequencing has identified thousands of genes containing mutations in autistic individuals, which may contribute… read more here.

Keywords: autism; nucleotide variations; may contribute; single nucleotide ... See more keywords
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Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.

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Published in 2023 at "Annales de biologie clinique"

DOI: 10.1684/abc.2023.1806

Abstract: Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed… read more here.

Keywords: nucleotide variations; compound heterozygous; associated compound; analbuminemia associated ... See more keywords
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Single nucleotide variations in the development of diabetic foot ulcer: A narrative review

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Published in 2022 at "World Journal of Diabetes"

DOI: 10.4239/wjd.v13.i12.1140

Abstract: Diabetes mellitus has become a global health problem, and the number of patients with diabetic foot ulcers (DFU) is rapidly increasing. Currently, DFU still poses great challenges to physicians, as the treatment is complex, with… read more here.

Keywords: diabetic foot; development; nucleotide variations; single nucleotide ... See more keywords