A5079591021- Animal Genetics and Reproduction
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Antimicrobial Peptides and Activities
- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- Bacterial Genetics and Biotechnology
- Viral Infectious Diseases and Gene Expression in Insects
- CRISPR and Genetic Engineering
- Cancer-related gene regulation
- Pancreatic function and diabetes
- Toxin Mechanisms and Immunotoxins
- Venomous Animal Envenomation and Studies
- Bacillus and Francisella bacterial research
- Congenital heart defects research
- Neonatal Respiratory Health Research
- Healthcare and Venom Research
- Child Nutrition and Feeding Issues
- Nerve injury and regeneration
- Biochemical and Structural Characterization
- Fibroblast Growth Factor Research
- Neurobiology and Insect Physiology Research
- Environmental and Ecological Studies
- Hippo pathway signaling and YAP/TAZ
- Nicotinic Acetylcholine Receptors Study
American University
2025
Administração Regional de Saúde de Lisboa e Vale do Tejo
2021
University of Lisbon
2010-2020
Nzytech (Portugal)
2016-2020
Instituto Gulbenkian de Ciência
2009-2014
National Institute of Health Dr. Ricardo Jorge
2009-2014
Instituto Nacional de Saúde
2010
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
Autism spectrum disorder (ASD) is a highly heritable of complex and heterogeneous aetiology. It primarily characterized by altered cognitive ability including impaired language communication skills fundamental deficits in social reciprocity. Despite some notable successes neuropsychiatric genetics, overall, the high heritability ASD (~90%) remains poorly explained common genetic risk variants. However, recent studies suggest that rare genomic variation, particular copy number may account for...
The brain‐derived neurotrophic factor (BDNF), a neurotrophin fundamental for brain development and function, has previously been implicated in autism. In this study, the levels of BDNF platelet‐rich plasma were compared between autistic control children, role two genetic factors that might regulate contribute to autism etiology, NTRK2 , was examined. We found children ( n = 146) significantly higher t 6.82; P < 0.0001) than 50) positively correlated with platelet serotonin distribution r...
El propósito de este estudio es determinar el nivel desempeño sísmico un marco acero dos niveles tomando en cuenta la definición suelo rocoso que sugieren Reglamento Nacional Construcción y Norma Sismorresistente para ciudad Managua. Es utilizado Método del Espectro Capacidad con fin sísmico. Este método, cual se basa parámetros espectrales como desplazamiento aceleración, superpone curva capacidad estructura demanda sísmica. La construcción hace a partir las propiedades mecánicas los...
Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized (IGE) including benign neonatal convulsions. We identified a de novo t(3;8) (q21;q24) translocation truncating boy childhood autism. In addition, we c.1720C > T [p.P574S] nucleotide change three unrelated individuals autism no history of This was reported patients or IGE has now annotated as very...
Animal venoms are complex molecular cocktails containing a wide range of biologically active disulphide-reticulated peptides that target, with high selectivity and efficacy, variety membrane receptors. Disulphide-reticulated have evolved to display improved specificity, low immunogenicity show much higher resistance degradation than linear peptides. These properties make venom attractive candidates for drug development. However, recombinant expression reticulated disulphide bonds is...
Animal venoms are large, complex libraries of bioactive, disulphide-rich peptides. These peptides, and their novel biological activities, increasing pharmacological therapeutic importance. However, recombinant expression venom peptides in Escherichia coli remains difficult due to the significant number cysteine residues requiring effective post-translational processing. There is also an urgent need develop high-throughput protocols applicable production reticulated enable efficient screening...
Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies autism spectrum disorders (ASD) requires detailed assessment case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication annexin A1 (ANXA1) gene, by Autism Genome Project (AGP) study.From AGP CNV genomic screen 2,147 ASD individuals, selected for characterization an ANXA1 gene that was absent 4,964...
Animal venoms are rich in hundreds of toxins with extraordinary biological activities. Their exploitation is difficult due to their complexity and the small quantities venom available from most venomous species. We developed a Venomics approach combining transcriptomic proteomic characterization 191 species identified 20,206 toxin sequences. Two complementary production strategies based on solid-phase synthesis recombinant expression Escherichia coli generated physical bank 3597 toxins....
Gene synthesis is becoming an important tool in many fields of recombinant DNA technology, including protein production. De novo gene quickly replacing the classical cloning and mutagenesis procedures allows generating nucleic acids for which no template available. In addition, when coupled with efficient design algorithms that optimize codon usage, it leads to high levels expression. Here, we describe development optimized platform was applied large scale production small genes encoding...
Maturity onset diabetes of the young defines a mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and normal glycated haemoglobin 6.8%. She started sugar-free fast-absorption diet therapy was required. Fasting glucose normal, but 2 hours after lunch she presented as an oral tolerance test, 217 mg/dL. Family history positive for...