Articles with "allele" as a keyword



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Effect of mutation allele frequency on the risk stratification of myelodysplastic syndrome patients

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Published in 2022 at "American Journal of Hematology"

DOI: 10.1002/ajh.26734

Abstract: Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal myeloid malignancies. Though several recurrent mutations are closely correlated with clinical outcomes, data concerning the association between mutation variant allele frequencies (VAF) and prognosis are limited.… read more here.

Keywords: risk stratification; risk; allele; mutation ... See more keywords
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Association of polymorphisms in TNF and GRN genes with ankylosing spondylitis in a Chinese Han population

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Published in 2017 at "Rheumatology International"

DOI: 10.1007/s00296-017-3899-7

Abstract: The aim of this study is to investigate the association of the polymorphisms in tumor necrosis factor (TNF) and granulin (GRN) with ankylosing spondylitis (AS) in a Chinese Han population. Five single nucleotide polymorphisms (SNPs)… read more here.

Keywords: risk; chinese han; association polymorphisms; han population ... See more keywords
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The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?

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Published in 2017 at "Molecular Genetics and Genomics"

DOI: 10.1007/s00438-017-1294-4

Abstract: Evolutionary analyses of the critical core promoter interval support a selective advantage for expanding the length of certain short tandem repeats (STRs) in humans. We recently reported genome-wide data on human core promoter STRs that… read more here.

Keywords: allele; core promoter; repeat; selective advantage ... See more keywords
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Spontaneous transposition of HzSINE1 into CYP321A2 is undetectable in the field populations of Helicoverpa zea

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Published in 2021 at "Journal of Asia-Pacific Entomology"

DOI: 10.1016/j.aspen.2021.07.015

Abstract: Abstract The enrichment of transposable elements (TEs) within allelochemical- and insecticide-metabolizing P450 alleles in Helicoverpa zea enables these P450s to gain TE-introduced adaptive variations otherwise not readily available to cope with the ever-changing and diverse… read more here.

Keywords: field; helicoverpa zea; hzsine1 inserted; cyp321a2 ... See more keywords
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P248 Next generation sequencing reveals a novel hla-a*24 allele associated with hla-dqb1*06:10 in asians

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Published in 2017 at "Human Immunology"

DOI: 10.1016/j.humimm.2017.06.308

Abstract: Aim Next Generation Sequencing (NGS) for HLA typing improves not only the resolution of typing results but also aids in the discovery of novel alleles. Here we present a novel HLA-A∗24 allele associated with HLA-DQB1∗06:10,… read more here.

Keywords: allele associated; associated hla; hla; dqb1 ... See more keywords
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P128 Identification of novel A24 allele without subcloning

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Published in 2018 at "Human Immunology"

DOI: 10.1016/j.humimm.2018.07.185

Abstract: Aim To identify the mutation in one of the alleles at HLA-A locus in African American kidney transplant recipient. Methods Initial evaluation was done using OneLambda’s PCR-SSOP. Sequencing kits from GenDx’s AlleleSEQR (HLA-A) and Protrans’… read more here.

Keywords: p128 identification; hla; identification novel; allele ... See more keywords
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The minor allele of the CREBRF rs373863828 p.R457Q coding variant is associated with reduced levels of myostatin in males: Implications for body composition

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Published in 2022 at "Molecular Metabolism"

DOI: 10.1016/j.molmet.2022.101464

Abstract: Objective The minor allele (A) of the rs373863828 variant (p.Arg457Gln) in CREBRF is restricted to indigenous peoples of the Pacific islands (including New Zealand Māori and peoples of Polynesia), with a frequency of up to… read more here.

Keywords: levels myostatin; mass; rs373863828; allele ... See more keywords
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Allele-Specific RNA Knockdown with a Biologically Stable and Catalytically Efficient XNAzyme.

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Published in 2021 at "Journal of the American Chemical Society"

DOI: 10.1021/jacs.0c11353

Abstract: Therapeutic targeting of allele-specific single nucleotide mutations in RNA is a major challenge in biology and medicine. Herein, we describe the utility of the XNAzyme X10-23 to knock down allele-specific mRNA sequences in cells. We… read more here.

Keywords: specific rna; xnazyme; knockdown biologically; rna knockdown ... See more keywords
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Valuable allele in the wild

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Published in 2019 at "Nature Plants"

DOI: 10.1038/s41477-019-0521-x

Abstract: Upright architecture with a small leaf angle represents an elite trait in maize that enables dense planting and yield increase. Although previous mutant analysis has uncovered two genes, lg1 and lg2, that control leaf angle,… read more here.

Keywords: maize; expression; leaf angle; allele ... See more keywords
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Associations between m-type phospholipase A2 receptor,human leukocyte antigen gene polymorphisms and idiopathic membranous nephropathy.

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Published in 2021 at "Bioengineered"

DOI: 10.1080/21655979.2021.1987080

Abstract: BACKGROUND AND PURPOSE Primary membranous nephropathy, also known as idiopathic membranous nephropathy, is an autoimmune disease. As an autoimmune disease, genetic factors are essential in the pathogenesis of IMN. People pay more and more attention… read more here.

Keywords: rs2715928; group; disease; allele ... See more keywords
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A cryptic natural variant allele of BYPASS2 suppresses the bypass1 mutant phenotype.

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Published in 2023 at "Plant physiology"

DOI: 10.1093/plphys/kiad124

Abstract: The Arabidopsis (Arabidopsis thaliana) BYPASS1 (BPS1) gene encodes a protein with no functionally characterized domains, and loss-of-function mutants (e.g. bps1-2 in Col-0) present a severe growth-arrest phenotype that is evoked by a root-derived graft-transmissible small… read more here.

Keywords: bps1; phenotype; natural variant; allele ... See more keywords