High-Throughput Microscopy Characterization of Rare Variants.

Familial hypercholesterolemia (FH) is the most common inherited life-threatening disorder of lipid metabolism. Early diagnosis and treatment are the key to reduce the cumulative life-long cardiovascular burden of patients with FH. The high number of variants described as variants of unknown significance is the largest obstacle to achieve a definitive FH diagnosis.

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.

Background: Familial Hypercholesterolemia (FH) is a semidominant disorder of the lipid metabolism associated with premature atherosclerosis and coronary heart disease. So far, about 3,000 unique LDLR variants have been described, most of which lack functional evidence proving their effect on LDLR function, despite the important role that functional studies play in variant classification.

Objective: In this work, we aimed to functionally characterize 13 rare missense variants, identified worldwide and in Portugal, in clinical FH patients.

Characterization of Two Variants at Met 1 of the Human Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes.

Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism, characterized by increased levels of total and LDL plasma cholesterol, which leads to premature atherosclerosis and coronary heart disease. FH phenotype has considerable genetic heterogeneity and phenotypic variability, depending on LDL receptor activity and lifestyle. To improve diagnosis and patient management, here, we characterized two single nucleotide missense substitutions at Methionine 1 of the human gene (c.

LDLR variants functional characterization: Contribution to variant classification.

Background And Aims: Familial hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. LDLR mutations are the cause of disease in 90% of the cases but functional studies have only been performed for about 15% of all LDLR variants. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 142 unique LDLR alterations were identified and 44 (30%) lack functional characterization.

New insights into resistance to colistin and third-generation cephalosporins of Escherichia coli in poultry, Portugal: Novel bla and bla genes.

The increasing incidence of intestinal colonization with extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae and Gram negative organisms that has been observed in food animals such as poultry, cattle and pigs, are suggestive that animals, food and environment are potential sources of ESBL-producing bacteria. Hence, the aim of this study was to characterized commensal E. coli obtained from healthy broiler and turkey flocks at slaughter for the presence of penicillinases-, ESBL-, extended-spectrum AmpC (ESAC)-, plasmid-mediated quinolone resistance- and MCR-encoding genes.

QnrS1- and Aac(6')-Ib-cr-Producing Escherichia coli among Isolates from Animals of Different Sources: Susceptibility and Genomic Characterization.

Salmonella enterica and Escherichia coli can inhabit humans and animals from multiple origins. These bacteria are often associated with gastroenteritis in animals, being a frequent cause of resistant zoonotic infections. In fact, bacteria from animals can be transmitted to humans through the food chain and direct contact.