Results 31 to 40 of about 1,835,894 (312)

Isolation of highly heat-resistant Listeria monocytogenes variants by use of a kinetic modeling-based sampling scheme. [PDF]

open access: yes, 2011
Item does not contain fulltextStable high-hydrostatic-pressure (HHP)-resistant Listeria monocytogenes LO28 variants were previously isolated and characterized. These HHP variants were also more resistant to heat.
Moezelaar, R.   +11 more
core   +1 more source

Genetic Criticism with Textual Criticism: From Variant to Variation [PDF]

open access: yes, 2017
It has been necessary to make a clear distinction between genetic criticism and textual criticism. I suggested that textual criticism is a science of repetition and genetic criticism a science of invention; that the aim of textual criticism is to ...
Ferrer, Daniel
core   +1 more source

Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs.
Yali Zhao   +3 more
doaj   +1 more source

Matching Variants for functional characterization of genetic variants

open access: yesG3: Genes, Genomes, Genetics, 2023
Abstract Rapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic ...
Sebiha Cevik   +5 more
openaire   +3 more sources

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis [PDF]

open access: yes, 2013
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10−4).
International Ibd Genetics Consortium   +999 more
core   +1 more source

The Impact of ACE2 Polymorphisms on COVID-19 Disease: Susceptibility, Severity, and Therapy

open access: yesFrontiers in Cellular and Infection Microbiology, 2021
The coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has currently spread worldwide, leading to high morbidity and mortality.
Fei Chen   +5 more
doaj   +1 more source

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits [PDF]

open access: yes, 2011
Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis ...
Palmer Cameron D.   +799 more
core   +3 more sources

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

open access: yesFrontiers in Genetics, 2019
RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in coding and
Joseane Biso de Carvalho   +6 more
doaj   +1 more source

Release of infectious virus and cytokines in nasopharyngeal swabs from individuals infected with non-alpha or alpha SARS-CoV-2 variants: an observational retrospective study

open access: yesEBioMedicine, 2021
Background: The dynamics of SARS-CoV-2 alpha variant shedding and immune responses at the nasal mucosa remain poorly characterised. Methods: We measured infectious viral release, antibodies and cytokines in 426 PCR+ nasopharyngeal swabs from individuals ...
Blandine Monel   +26 more
doaj   +1 more source

The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants [PDF]

open access: yes, 2010
Background: The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of patients with inflammatory bowel disease and to elucidate phenotypic consequences.
Darina Czamara   +64 more
core   +2 more sources

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