Results 71 to 80 of about 5,468,152 (291)

Haplotype reconstruction error as a classical misclassification problem [PDF]

open access: yes, 2008
Statistically reconstructing haplotypes from single nucleotide polymorphism (SNP) genotypes, can lead to falsely classified haplotypes. This can be an issue when interpreting haplotype association results or when selecting subjects with certain ...
Heid, Iris M.   +3 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

Single nucleotide polymorphisms as a prerequisite for autoantigens [PDF]

open access: yesEuropean Journal of Immunology, 2005
AbstractIt is still elusive why certain self proteins induce an autoimmune response. One immunological hypothesis is that only modified or altered self‐proteins may become a target. Thus, we asked whether such alterations may actually be genetic polymorphisms that can be revealed by analyzing sequence variability in the known human autoantigens. Indeed,
Stadler MB   +4 more
openaire   +3 more sources

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh   +5 more
wiley   +1 more source

Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin [PDF]

open access: yes, 2007
The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a ...
Moustafa M. Mansour   +17 more
core  

Attomolar Detection of HIV‐1 With Label‐Free RCA‐rCRISPR on Smartphone

open access: yesAdvanced Science, EarlyView.
A new diagnostic strategy integrating rolling circle amplification (RCA) with a plasmid reporter–based ratiometric CRISPR (rCRISPR) system was developed to detect unfragmented HIV genomes with single‐digit attomolar sensitivity. The method quantifies targets using the plasmid relaxation ratio and employs a smartphone‐based mini‐gel device to enable ...
Noor Mohammad   +12 more
wiley   +1 more source

Single Nucleotide Polymorphism (SNP) identified.xlsx

open access: yes, 2019
Single Nucleotide Polymorphism (SNP ...
RODRIGO VIDAL (6845669)
core   +1 more source

An Efficient Biological Codon Recognition Reservoir Computing System Based on Low‐Energy Epitaxial Hf0.52Zr0.48O2 Ferroelectric Memristors

open access: yesAdvanced Science, EarlyView.
This work reports on epitaxially grown Hf0.52Zr0.48O2 ferroelectric memristors with high stability (high durability exceeding 108 cycles and a retention time exceeding 104 s for 16 states) and ultra‐low operating energy consumption (∼121 fJ). A memristor array‐based reservoir computing system is constructed and applied for the first time in the field ...
Ying Liu   +6 more
wiley   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

open access: yesAdvanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang   +10 more
wiley   +1 more source

Analyzing a single nucleotide polymorphism in schizophrenia: a meta-analysis approach [PDF]

open access: yes, 2017
Oluwadamilare Falola,1 Victor Chukwudi Osamor,1,2 Marion Adebiyi,1,2 Ezekiel Adebiyi1,2 1Covenant University Bioinformatics Research (CUBRe), 2Department of Computer and Information Sciences, College of Science and Technology, Covenant University, Ota ...
Adebiyi M   +11 more
core   +1 more source

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