Results 31 to 40 of about 1,572,926 (319)

Analysis of IL12B gene variants in inflammatory bowel disease [PDF]

open access: yes, 2012
IL12B encodes the p40 subunit of IL-12, which is also part of IL-23. Recent genome-wide association studies identified IL12B and IL23R as susceptibility genes for inflammatory bowel disease (IBD).
Darina Czamara   +79 more
core   +1 more source

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

open access: yes, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L.   +143 more
core   +1 more source

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels [PDF]

open access: yes, 2013
Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.
Marjo-Riitta Jarvelin   +323 more
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

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   +65 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

Circadian gene variants and susceptibility to type 2 diabetes : a pilot study [PDF]

open access: yes, 2012
Background Disruption of endogenous circadian rhythms has been shown to increase the risk of developing type 2 diabetes, suggesting that circadian genes might play a role in determining disease susceptibility.
O’Hare J. Paul   +77 more
core   +1 more source

Evaluation of association of HNF1B variants with diverse cancers : collaborative analysis of data from 19 genome-wide association studies [PDF]

open access: yes, 2010
Background Genome-wide association studies have found type 2 diabetes-associated variants in the HNF1B gene to exhibit reciprocal associations with prostate cancer risk.
Tomlinson, IP   +280 more
core   +1 more source

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

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