Browsing by Subject "Alleles"
Now showing items 21-36 of 36
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MBL deficiency-causing B allele (rs1800450) as a risk factor for severe COVID-19
(2021)The COVID-19 pandemic represents one of the greatest challenges in modern medicine. The disease is characterized by a variable clinical phenotype, ranging from asymptomatic carriage to severe and/or critical disease, which ... -
MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease
(2011)Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ... -
A meta-analysis of FZD3 gene polymorphisms and their association with schizophrenia
(2016)Objective The aim of this study was to investigate the potential association of FZD3 polymorphisms with schizophrenia. Methods A systematic review and a meta-analysis were carried out comprising of nine genetic association ... -
Microsatellite analysis of olive fly populations in the mediterranean indicates a westward expansion of the species
(2005)Bactrocera oleae is the major insect pest of the olive fruit. Twelve microsatellite loci isolated from the genome of this insect were used in a Mediterranean-wide population analysis. These loci were highly polymorphic ... -
Multiple sclerosis: Shall we target cd33?
(2020)Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). Myeloid lineage cells (microglia and macrophages) may participate in the pathogenic mechanisms leading to MS. CD33 is a transmembrane ... -
Multivariate methods for meta-analysis of genetic association studies
(2018)Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a ... -
Netherton Syndrome: A Genotype-Phenotype Review
(2017)Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ... -
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency
(2020)Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ... -
Polymorphisms of IL12RB2 may affect the natural history of primary biliary cholangitis: A single centre study
(2017)Background. Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2 (IL12RB2) gene. Aims.We assessedwhether genetic variation of IL12RB2 ... -
Positive selection and precipitation effects on the mitochondrial NADH dehydrogenase subunit 6 gene in brown hares (Lepus europaeus) under a phylogeographic perspective
(2019)Previous studies in hares and jackrabbits have indicated that positive selection has shaped the genetic diversity of mitochondrial genes involved in oxidative phosphorylation, which may affect cellular energy production ... -
Sad3 and Sad4 are required for saponin biosynthesis and root development in oat
(2008)Avenacins are antimicrobial triterpene glycosides that are produced by oat (Avena) roots. These compounds confer broad-spectrum resistance to soil pathogens. Avenacin A-1, the major avenacin produced by oats, is strongly ... -
Serpin family E member 1 tag single-nucleotide polymorphisms in patients with diabetic nephropathy: An association study and meta-analysis using a genetic model-free approach
(2021)Background: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is SERPINE1 whose the role in the risk of developing DN remains questionable. ... -
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
(2017)Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare ... -
Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach
(2022)BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders. Despite the extensive efforts of scientists, the etiology of ASD is far from completely ... -
VIM-12, a novel plasmid-mediated metallo-β-lactamase from Klebsiella pneumoniae that resembles a VIM-1/VIM-2 hybrid
(2005)A transferable plasmid from Klebsiella pneumoniae carried a class 1 integron containing blaVIM-12, a novel blaVIM-type gene, flanked by two copies of aacA7. blaVIM-12 was clustered between bla-VIM-1 and bla-VIM-2 and ...