Articles with "sequence variations" as a keyword



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Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.

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Published in 2022 at "JAMA oncology"

DOI: 10.1001/jamaoncol.2022.5425

Abstract: Importance Germline sequence variations in APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53 genes are associated with susceptibility to gastrointestinal cancers. As a rare cancer, the evaluation of… read more here.

Keywords: cancer susceptibility; sequence; gene; cancer ... See more keywords
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Ratpost: a searchable database of protein-inactivating sequence variations in 40 sequenced rat-inbred strains

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Published in 2021 at "Mammalian Genome"

DOI: 10.1007/s00335-020-09853-1

Abstract: Rat-inbred strains are essential as scientific tools. We have analyzed the publicly available genome sequences of 40 rat-inbred strains and provide an overview of sequence variations leading to amino acid changes in protein-coding genes, premature… read more here.

Keywords: protein; inbred strains; rat inbred; sequence variations ... See more keywords
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Rapid Characterization of Insulin Modifications and Sequence Variations by Proteinase K Digestion and UHPLC-ESI-MS

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Published in 2018 at "Journal of The American Society for Mass Spectrometry"

DOI: 10.1007/s13361-017-1887-5

Abstract: AbstractDiscovery of novel insulin analogs as therapeutics has remained an active area of research. Compared with native human insulin, insulin analog molecules normally incorporate either covalent modifications or amino acid sequence variations. From the drug… read more here.

Keywords: modifications sequence; insulin; sequence variations; proteinase digestion ... See more keywords
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Null alleles and sequence variations at primer binding sites of STR loci within multiplex typing systems.

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Published in 2018 at "Legal medicine"

DOI: 10.1016/j.legalmed.2017.10.007

Abstract: Rare variants are widely observed in human genome and sequence variations at primer binding sites might impair the process of PCR amplification resulting in dropouts of alleles, named as null alleles. In this study, 5… read more here.

Keywords: typing systems; null alleles; primer binding; sequence variations ... See more keywords
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Subtle sequence variations alter tripartite complex kinetics and G-quadruplex dynamics in RNA aptamer Broccoli.

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Published in 2020 at "Chemical communications"

DOI: 10.1039/c9cc09375c

Abstract: Though extensively utilized, the fluorescent RNA aptamer Broccoli is poorly characterized with an unknown structure. Spectroscopic and kinetic investigations of tripartite complex formation reveal surprising differences between Broccoli and Spinach aptamers despite extreme sequence conservation.… read more here.

Keywords: subtle sequence; sequence variations; rna aptamer; tripartite complex ... See more keywords
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Mining sequence variations in representative polyploid sugarcane germplasm accessions

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Published in 2017 at "BMC Genomics"

DOI: 10.1186/s12864-017-3980-3

Abstract: BackgroundSugarcane (Saccharum spp.) is one of the most important economic crops because of its high sugar production and biofuel potential. Due to the high polyploid level and complex genome of sugarcane, it has been a… read more here.

Keywords: snps; sequence variations; sugarcane; saccharum complex ... See more keywords
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Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China

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Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1145426

Abstract: Purpose: To screen VSX1 gene sequence variations and describe the clinical features of families with keratoconus (KC) from northwest China. Methods: We screened VSX1 sequence variations and clinical data of 37 families including 37 probands… read more here.

Keywords: northwest china; keratoconus northwest; families keratoconus; analysis ... See more keywords
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HIV-1 Tat and Viral Latency: What We Can Learn from Naturally Occurring Sequence Variations

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Published in 2017 at "Frontiers in Microbiology"

DOI: 10.3389/fmicb.2017.00080

Abstract: Despite the effective use of antiretroviral therapy, the remainder of a latently HIV-1-infected reservoir mainly in the resting memory CD4+ T lymphocyte subset has provided a great setback toward viral eradication. While host transcriptional silencing… read more here.

Keywords: latency; viral latency; sequence variations; naturally occurring ... See more keywords
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Genome Sequence Variations of Infectious Bronchitis Virus Serotypes From Commercial Chickens in Mexico

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Published in 2022 at "Frontiers in Veterinary Science"

DOI: 10.3389/fvets.2022.931272

Abstract: New variants of infectious bronchitis viruses (IBVs; Coronaviridae) continuously emerge despite routine vaccinations. Here, we report genome sequence variations of IBVs identified by random non-targeted next generation sequencing (NGS) of vaccine and field samples collected… read more here.

Keywords: variations infectious; infectious bronchitis; sequence; genome sequence ... See more keywords