17 documents found, page 1 of 2
Fantastic databases and where to find them: Web applications for researchers in...
Villalba,Gerda Cristal; Matte,UrsulaAbstract Public databases are essential to the development of multi-omics resources. The amount of data created by biological technologies needs a systematic and organized form of storage, that can quickly be accessed, and managed. This is the objective of a biological database. Here, we present an overview of human databases with web applications. The databases and tools allow the search of biological sequence...
Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable an...
Mariath,Luiza Monteavaro; Kiszewski,Ana Elisa; Frantz,Jeanine Aparecida; Siebert,Marina; Matte,Ursula; Schuler-Faccini,LavíniaAbstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and c...
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proport...
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potenti...
Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,RobertoAbstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 p...
Sensitivity, advantages, limitations, and clinical utility of targeted next-gen...
Málaga,Diana Rojas; Brusius-Facchin,Ana Carolina; Siebert,Marina; Pasqualim,Gabriela; Saraiva-Pereira,Maria Luiza; Souza,Carolina F.M deAbstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected families, leading to an appropriate genetic counseling an...
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
Poletto,Edina; Pasqualim,Gabriela; Giugliani,Roberto; Matte,Ursula; Baldo,GuilhermeAbstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement...
Determining the pathogenicity of CFTR missense variants: Multiple comparisons o...
Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,MarinaAbstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of t...
Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin ...
Oliveira-Klein,Mariana de; Cardoso-dos-Santos,Augusto César; Tagliani-Ribeiro,Alice; Fagundes,Nelson Rosa; Matte,Ursula; Schuler-Faccini,LaviniaAbstract Insulin-like growth factor (IGF-1) is an important peptide hormone involved in the reproduction and fetal development of mammals, and it is suggested that it may influence the human twinning rate. This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Braz...
Lysosome: The Story Beyond the Storage
Matte,Ursula; Pasqualim,GabrielaAbstract Since Christian de Duve first described the lysosome in the 1950s, it has been generally presented as a membrane-bound compartment containing acid hydrolases that enables the cell to degrade molecules without being digested by autolysis. For those working on the field of lysosomal storage disorders, the lack of one such hydrolase would lead to undegraded or partially degraded substrate storage inside e...
Costs of genetic testing: Supporting Brazilian Public Policies for the incorpor...
Schlatter,Rosane Paixão; Matte,Ursula; Polanczyk,Carisi Anne; Koehler-Santos,Patrícia; Ashton-Prolla,PatriciaThis study identifies and describes the operating costs associated with the molecular diagnosis of diseases, such as hereditary cancer. To approximate the costs associated with these tests, data informed by Standard Operating Procedures for various techniques was collected from hospital software and a survey of market prices. Costs were established for four scenarios of capacity utilization to represent the pos...