71 documents found, page 1 of 8

Nocardia spp. isolation in chronic lung diseases: Are there differences between...

Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, B...

Background: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can pre...

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, B...

The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinica...

Lung Auscultation Using the Smartphone-Feasibility Study in Real-World Clinical...

Conventional lung auscultation is essential in the management of respiratory diseases. However, detecting adventitious sounds outside medical facilities remains challenging. We assessed the feasibility of lung auscultation using the smartphone built-in microphone in real-world clinical practice. We recruited 134 patients (median[interquartile range] 16[11–22.25]y; 54% male; 31% cystic fibrosis, 29% other respir...

Cystic fibrosis and amyotrophic lateral sclerosis, an unexpected association

Genetic variability of the functional domains of chromodomains helicase DNA-bin...

In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary term...

4specid: Reference dna libraries auditing and annotation system for forensic ap...

Forensic genetics is a fast-growing field that frequently requires DNA-based taxonomy, namely, when evidence are parts of specimens, often highly processed in food, potions, or ointments. Reference DNA-sequences libraries, such as BOLD or GenBank, are imperative tools for taxonomic assignment, particularly when morphology is inadequate for classification. The auditing and cura- tion of these datasets require re...

Evolutionary dynamics of the human pseudoautosomal regions

Recombination between the X and Y human sex chromosomes is limited to the two pseudoautosomal regions (PARs) that present quite distinct evolutionary origins. Despite the crucial importance for male meiosis, genetic diversity patterns and evolutionary dynamics of these regions are poorly understood. In the present study, we analyzed and compared the genetic diversity of the PAR regions using publicly available ...

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, b...

Background: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can pre...

GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss du...

The gene encoding the cytosolic ß-glucosidase GBA3 shows pseudogenization due to a truncated allele (rs358231) that is polymorphic in humans. Since this enzyme is involved in the transformation of many plant ß-glycosides, this particular case of gene loss may have been influenced by dietary adaptations during evolution. In humans, apart from the inactivating allele, we found that GBA3 accumulated additional dam...