Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
Sign Up to like & getrecommendations! 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
Peptide Sequence Variations Govern Hydrogel Stiffness: Insights from a Multi-Scale Structural Analysis of H-FQFQFK-NH2 Peptide Derivatives.
Sign Up to like & getrecommendations! Published in 2024 at "Macromolecular bioscience"
DOI: 10.1002/mabi.202300579
Abstract: Throughout the past decades, amphipathic peptide-based hydrogels have proven to be promising materials for biomedical applications. Amphipathic peptides are known to adopt β-sheet configurations that self-assemble into fibers that then interact to form a hydrogel… read more here.
Keywords: variations govern; sequence variations; sequence; peptide ... See more keywords
Ratpost: a searchable database of protein-inactivating sequence variations in 40 sequenced rat-inbred strains
Sign Up to like & getrecommendations! 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
Rapid Characterization of Insulin Modifications and Sequence Variations by Proteinase K Digestion and UHPLC-ESI-MS
Sign Up to like & getrecommendations! 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
Null alleles and sequence variations at primer binding sites of STR loci within multiplex typing systems.
Sign Up to like & getrecommendations! 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
Subtle sequence variations alter tripartite complex kinetics and G-quadruplex dynamics in RNA aptamer Broccoli.
Sign Up to like & getrecommendations! 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
Mining sequence variations in representative polyploid sugarcane germplasm accessions
Sign Up to like & getrecommendations! 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
Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China
Sign Up to like & getrecommendations! 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
HIV-1 Tat and Viral Latency: What We Can Learn from Naturally Occurring Sequence Variations
Sign Up to like & getrecommendations! 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
Genome Sequence Variations of Infectious Bronchitis Virus Serotypes From Commercial Chickens in Mexico
Sign Up to like & getrecommendations! 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
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26114969
Abstract: Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by ataxia, sensory loss and pyramidal signs. While the majority of FRDA cases are caused by biallelic GAA trinucleotide repeat expansions in intron 1 of… read more here.
Keywords: repeat; gaa; mosaic sequence; long read ... See more keywords