Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Sandra Leistner-Segal"'
Autor:
Jéssica Dick-Guareschi, Juliana Cristine Fontana, Maria Teresa Vieira Sanseverino, Francyne Kubaski, Leo Sekine, Nanci Félix Mesquita, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 44, Iss 3, Pp 379-385 (2022)
Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thro
Externí odkaz:
https://doaj.org/article/3cba95932aad41c6b9f1cd26ae286f18
Autor:
Nathalia Kersting, Juliana Cristine Fontana, Fabiane Pohlmann de Athayde, Fernanda Marcante Carlotto, Bruna Accorsi Machado, Cristiane da Silva Rodrigues de Araújo, Leo Sekine, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 2 (2023)
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no
Externí odkaz:
https://doaj.org/article/1a09ab0882444a3894ef1ed68d9c6e8c
Autor:
Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 162-167 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and
Externí odkaz:
https://doaj.org/article/cb2cd21c4abc442088c12a59965a6411
Autor:
Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Juliana Josahkian, Roberto Giugliani
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9 exons, spanning appro
Externí odkaz:
https://doaj.org/article/3b22f180790947778d87aeca9c971d99
Autor:
Isabel Cristina Bandeira, Lucas Giombelli, Isabel Cristina Werlang, Ana Lucia Abujamra, Thais Leite Secchi, Rosane Brondani, José Augusto Bragatti, Jorge Wladimir Junqueira Bizzi, Sandra Leistner-Segal, Marino Muxfeldt Bianchin
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 15 (2021)
The relationship between epilepsy and psychiatric comorbidities has been recognized for centuries, but its pathophysiological mechanisms are still misunderstood. It is biologically plausible that genetic or epigenetic variations in genes that codify
Externí odkaz:
https://doaj.org/article/0047d4ff22034b38b10c5318e4faff44
Autor:
Tiago F. Andreis, Bruno S. Correa, Fernanda S. Vianna, Fernanda De-Paris, Marina Siebert, Sandra Leistner-Segal, Eriza C. Hahn, Jane M. Ulbrich, Luis F.R. Rivero, Francine H. De Oliveira, Vinícius Lorandi, Patricia Ashton-Prolla, Gabriel S. Macedo
Publikováno v:
Journal of Global Oncology, Vol 5, Pp 1-9 (2019)
PURPOSE: Adenocarcinoma is the most common histologic subtype of non–small-cell lung cancer, representing 40% of all diagnoses. Several biomarkers are currently used to determine patient eligibility for targeted treatments, including analysis of mo
Externí odkaz:
https://doaj.org/article/28864e23339447a2a1a5fea37f27b547
Autor:
Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 1 (2021)
Abstract The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality
Externí odkaz:
https://doaj.org/article/c9524199e3bb4d05b8c7a98d09a691e0
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-3 (2019)
Abstract Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the alpha-N-acetyl-D-glucosaminida
Externí odkaz:
https://doaj.org/article/beab54743efc429599c38484e348a833
Autor:
Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract 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 re
Externí odkaz:
https://doaj.org/article/1d2e1661a2b040df81291c0e287b4cb9
Autor:
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract 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 physiologica
Externí odkaz:
https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269