Search results for "Morphisms"
showing 10 items of 190 documents
Two single nucleotide polymorphisms in the MICA gene and sMICA plasma levels are associated with hepatocellular carcinoma development in an Italian p…
2017
Background & Aims: We investigated the relationships between MICA polymorphisms, sMICA levels and hepatocellular carcinoma (HCC) risk in HCC patients with chronic hepatitis C virus (HCV) infection. Methods.154 HCV-related HCC cases, 93 HCV-related liver cirrhosis (LC) cases and 244 healthy controls were genotyped using KASPTM SNP method. Levels of plasma soluble MICA (sMICA) were measured in 132 HCC, 90 LC patients and in 78 controls. Results. Genotyping of MICA rs2596542 showed that G/G genotype was significantly more frequent in HCC than in controls and in HCC than in LC patients. As for MICA rs2596538 allele C and C/C genotype were significantly more frequent in HCC than in controls …
Liver and Statins: A Critical Appraisal of the Evidence.
2019
Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…
2016
INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION
The genome-wide structure of two economically important indigenous Sicilian cattle breeds
2014
Genomic technologies, such as highthroughput genotyping based on SNP arrays, provided background information concerning genome structure in domestic animals. The aim of this work was to investigate the genetic structure, the genome-wide estimates of inbreeding, coancestry, effective population size (Ne), and the patterns of linkage disequilibrium (LD) in 2 economically important Sicilian local cattle breeds, Cinisara (CIN) and Modicana (MOD), using the Illumina Bovine SNP50K v2 BeadChip. To understand the genetic relationship and to place both Sicilian breeds in a global context, genotypes from 134 other domesticated bovid breeds were used. Principal component analysis showed that the Sicil…
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotype…
2009
Abstract Background Agouti and Extension loci control the relative amount of eumelanin and pheomelanin production in melanocytes that, in turn, affects pigmentation of skin and hair. The Extension locus encodes the melanocortin 1 receptor (MC1R) whose permanent activation, caused by functional mutations, results in black coat colour, whereas other inactivating mutations cause red coat colour in different mammals. Results The whole coding region of the MC1R gene was sequenced in goats of six different breeds showing different coat colours (Girgentana, white cream with usually small red spots in the face; Maltese, white with black cheeks and ears; Derivata di Siria, solid red; Murciano-Granad…
Bi-Sobolev extensions
2022
We give a full characterization of circle homeomorphisms which admit a homeomorphic extension to the unit disk with finite bi-Sobolev norm. As a special case, a bi-conformal variant of the famous Beurling-Ahlfors extension theorem is obtained. Furthermore we show that the existing extension techniques such as applying either the harmonic or the Beurling-Ahlfors operator work poorly in the degenerated setting. This also gives an affirmative answer to a question of Karafyllia and Ntalampekos.
Anisotropic Sobolev homeomorphisms
2011
Let › ‰ R 2 be a domain. Suppose that f 2 W 1;1 loc (›;R 2 ) is a homeomorphism. Then the components x(w), y(w) of the inverse f i1 = (x;y): › 0 ! › have total variations given by jryj(› 0 ) = › fl fl @f fl fl dz; jrxj(› 0 ) = › fl fl @f @y fl fl dz:
Seifert manifolds admitting partially hyperbolic diffeomorphisms
2017
We characterize which 3-dimensional Seifert manifolds admit transitive partially hyperbolic diffeomorphisms. In particular, a circle bundle over a higher-genus surface admits a transitive partially hyperbolic diffeomorphism if and only if it admits an Anosov flow.
Surface homeomorphisms with zero dimensional singular set
1998
We prove that if f is an orientation-preserving homeomorphism of a closed orientable surface M whose singular set is totally disconnected, then f is topologically conjugate to a conformal transformation.
One is not enough: On the effects of reference genome for the mapping and subsequent analyses of short-reads.
2020
Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome is a frequently used approach in microbial genomics. However, the choice of a reference may represent a source of errors that may affect subsequent analyses such as the detection of single nucleotide polymorphisms (SNPs) and phylogenetic inference. In this work, we evaluated the effect of reference choice on short-read sequence data from five clinically and epidemiologically relevant bacteria (Klebsiella pneumoniae, Legionella pneumophila, Neisseria gonorrhoeae, Pseudomonas aeruginosa and Serratia marcescens). Publicly available whole-genome assemblies encompassing the genomic diversity of these species…